PROMs Repository

The ERICA Patient Reported Outcome Measures (PROMs) Repository is the first attempt to identify and centralize Clinical Assessment Outcomes questionnaires of relevance for rare diseases and constitutes a milestone in the Europe-wide standardization of Patient-Centered Outcome Measures (PCOMs) and PROMs for rare diseases. It has been made possible through the joint collaboration between Orphanet, Mapi Research Trust/ICON and ERN EuroBloodNet (VHIR, APHP), and the active contribution of ERNs and ePAGs. The methodology for the constitution and future evolution of the repository can be found in deliverable 3.1 (, 849 KB) and deliverable 3.2 (, 661 KB).

The central repository is a dynamic and evolutive service and should be regarded as a centralized and standardized access gate to more in depth information contained in PROQOLID™.

PCOM/PROM Name	Type	PROQOLID™	Age	Domains	Disease (OrphaName)	OrphaCode	Group of Diseases	ERNs	PROQOLID™ Link
Adult Sickle Cell Quality of Life Measurement Information System® (ASCQ-Me®)	PRO	Full	Adult	Emotional impact (20 items) Social functioning (17 items) Pain (13 items) Stiffness (15 items) Sleep functioning (12 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
EORTC - Chronic Myeloid Leukaemia (EORTC QLQ-CML24)	PRO	Basic	Adult	Symptom Burden Impact on Daily Life Impact on Worry/Mood Body Image Problems Satisfaction with Care and Satisfaction with Social Life	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
EORTC - Non Hodgkin Lymphoma Low Grade Module (EORTC- QLQ-NHL-LG20)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (4 items) Physical condition/Fatigue (4 items) Emotional impacts (4 items) Worries/Fears health and functioning (8 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Haemophilia Quality of Life Questionnaire for Children (Haemo-QOL)	PRO or ObsRO	Full	Pediatric Adolescent	Physical health Feeling Attitude (view) Family Friends Other people Sport and school/kindergarten Coping/dealing Treatment Perceived support Future Relationship	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Validated Hemophilia Regimen Treatment Adherence Scale-Prophylaxis (VERITAS-Pro)	PRO or ObsRO	Basic	Pediatric Adolescent	Adherence to treatment -Timing (4 items) Adherence to treatment -Dosing (4 items) Adherence to treatment -Planning (4 items) Adherence to treatment -Remembering (4 items) Adherence to treatment -Skipping (4 items) Adherence to treatment -Communicating (4 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Assessment of caregiver experience with neuromuscular disease (ACEND)	PRO	No	Caregiver	Domain 1: Physical impact-feeding/grooming/dressing (6 items) Domain 1: Physical impact-Sitting/play (5 items) Domain 1: Physical impact-Transfers (5 items) Domain 1: Physical impact-Mobility (7 items) Domain 2: General caregiver impact-Time (4 items) Domain 2: General caregiver impact-Emotion (9 items) Domain 2: General caregiver impact-Finance (5 items)	Neuromuscular disease	ORPHA:68381	Rare neuromuscular disease	ERN EURO-NMD
Achondroplasia Personal Life Experience Scale (APLES)	PRO	No	Pediatric Adolescent	Self-perception (6 items) Family (4 items) Friends (7 items) Recreation (Sport, clothes, shoping: 5 items) Kindergarten/School (3 items) Strangers (4 items) Physical (6 items)	Achondroplasia	ORPHA:15	Rare bone disease	ERN BOND ERN ITHACA
Acromegaly Quality of Life questionnaire (AcroQoL)	PRO	Full	Adult	Physical (8 items) Psychological (14 items)	Acromegaly	ORPHA:963	Rare endocrine disease	ERN Endo	Link
Activities of Daily Vision & Daily Task Performance Questionnaire (ADVS)	PRO	Basic	Aged	Distance vision Near vision Glare disability Night driving Daytime driving	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Activities Scale for Kids©-Performance (ASK©-Performance)	PRO or ObsRO	Full	Pediatric Adolescent	Physical functioning: walk without any support get around INSIDE walk (or wheel) in crowded areas walk up and down a flight of stairs stand still for 10 minutes carry things in 2 hands stretch to reach carry a drink or food get in and out of a chair sit on the floor get in and out of my bed get down onto the floor from standing get through heavy doors got around outside play some sports walk (or wheel) on rough or slippery surfaces walk (or wheel) up a gentle hill keep up running get in and out of an automobile Activities of Daily Living: brush my teeth getting on and off the toilet wash my whole body put my shirt on put my pants on fasten my clothes put my shoes on and do them up script writing take care of my medical needs made a snack do my usual job or chores	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Activities-Specific Balance Confidence Scale (ABC scale)	PRO	Full	Adult Aged	Balance confidence	Not applicable	Not applicable	Not applicable	Not applicable	Link
Activity Limitations Questionnaire (ACTIVLIM)	PRO or ObsRO	Full	Pediatric Adolescent Adult Aged	Putting on a T-shirt Washing one's upper body Dressing one's lower body Taking a shower Sitting on the toilet Taking a bath Walking dowstairs Stepping out of a bath tub Opening a door Walking outdoors on level ground Washing one's face Hanging up a jacket on a hatstand Wiping one's upper body Walking upstairs Carrying a heavy load Getting into a car Standing for a long time (± 10 min) Walking more than 1 kilometre Closing a door Hopping on one foot Putting on a backpack Running	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Activity Limitations Questionnaire (ACTIVLIM)	PRO or ObsRO	Full	Pediatric Adolescent Adult Aged	Putting on a T-shirt Washing one's upper body Dressing one's lower body Taking a shower Sitting on the toilet Taking a bath Walking dowstairs Stepping out of a bath tub Opening a door Walking outdoors on level ground Washing one's face Hanging up a jacket on a hatstand Wiping one's upper body Walking upstairs Carrying a heavy load Getting into a car Standing for a long time (± 10 min) Walking more than 1 kilometre Closing a door Hopping on one foot Putting on a backpack Running	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	ORPHA:166	Rare peripheral neuropathy	ERN EURO-NMD	Link
Activity Limitations Questionnaire (ACTIVLIM)	PRO or ObsRO	Full	Pediatric Adolescent Adult Aged	Putting on a T-shirt Washing one's upper body Dressing one's lower body Taking a shower Sitting on the toilet Taking a bath Walking dowstairs Stepping out of a bath tub Opening a door Walking outdoors on level ground Washing one's face Hanging up a jacket on a hatstand Wiping one's upper body Walking upstairs Carrying a heavy load Getting into a car Standing for a long time (± 10 min) Walking more than 1 kilometre Closing a door Hopping on one foot Putting on a backpack Running	Myotonic dystrophy	ORPHA:206647	Rare neuromuscular disease	ERN EURO-NMD	Link
Activity Limitations Questionnaire (ACTIVLIM)	PRO or ObsRO	Full	Pediatric Adolescent Adult Aged	Putting on a T-shirt Washing one's upper body Dressing one's lower body Taking a shower Sitting on the toilet Taking a bath Walking dowstairs Stepping out of a bath tub Opening a door Walking outdoors on level ground Washing one's face Hanging up a jacket on a hatstand Wiping one's upper body Walking upstairs Carrying a heavy load Getting into a car Standing for a long time (± 10 min) Walking more than 1 kilometre Closing a door Hopping on one foot Putting on a backpack Running	Neuromuscular disease	ORPHA:68381	Rare neuromuscular disease	ERN EURO-NMD	Link
Addison's disease-specific quality of llife questionnaire (AddiQoL)	PRO	No	Adult	Fatigue Symptom Emotion	Addison disease	ORPHA:85138	Rare endocrine disease	ERN Endo
Adult Self Report (ASR)	PRO	Basic	Adult	anxious/depressed withdrawn somatic complaints thought problems attention problems aggressive behavior rule-breaking behavior intrusive behavior	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Amyotrophic Lateral Sclerosis Survey (ALS Survey)	PRO	Full	Adult	Speech Salivatin Swallowing Handwritting Cutting food and handling utensils Cutting food and/or handling feeding tube closures, cans or utensils Dressing and hygiene Turning in bed and adjusting sheets walking Climbingstairs Shortness of breath (Dyspnea) Trouble breathing while lying down (Orthopnea) Breathing Assistance/Respiratory Insufficiency Pain Crying or laughing uncontrollably religious or spiritual beliefs Treatment best use	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Amyotrophic Lateral Sclerosis Survey (ALS Survey)	PRO	Full	Adult	Speech Salivatin Swallowing Handwritting Cutting food and handling utensils Cutting food and/or handling feeding tube closures, cans or utensils Dressing and hygiene Turning in bed and adjusting sheets walking Climbingstairs Shortness of breath (Dyspnea) Trouble breathing while lying down (Orthopnea) Breathing Assistance/Respiratory Insufficiency Pain Crying or laughing uncontrollably religious or spiritual beliefs Treatment best use	Spinal Muscular Atrophy	ORPHA:70	Rare neuromuscular disease	ERN EURO-NMD	Link
Amyotrophic Lateral Sclerosis Survey (ALS Survey)	PRO	Full	Adult	Speech Salivatin Swallowing Handwritting Cutting food and handling utensils Cutting food and/or handling feeding tube closures, cans or utensils Dressing and hygiene Turning in bed and adjusting sheets walking Climbingstairs Shortness of breath (Dyspnea) Trouble breathing while lying down (Orthopnea) Breathing Assistance/Respiratory Insufficiency Pain Crying or laughing uncontrollably religious or spiritual beliefs Treatment best use	Motor neuron disease	ORPHA:98503	Rare neuromuscular disease	ERN EURO-NMD	Link
Arthritis Educational Needs Assessment Tool (ENAT)	PRO	Full	Adult	Managing pain (6 items) Movement (5 items) Feelings (4 items) Arthritis (7 items) Treatment from health professionals (7 items) Self-help measures (6 items) Support from others (4 items)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Autoimmune Bullous Disease Quality of Life Questionnaire (ABQOL)	PRO	Full	Adult Aged	Psychosocial (9 items) Mucosal (3 items) Symptoms (5 items)	Autoimmune bullous skin disease	ORPHA:79669	Rare skin disease	ERN Skin	Link
Bath Ankylosing Spondylitis Disease Activity Index (BASDAI)	PRO	Full	Adult	Fatigue (1 item) Spinal pain (1 item) Joint pain/swelling (1 item) Areas of localized tenderness (1 item) Morning stiffness (2 items)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA	Link
Bath Ankylosing Spondylitis Functional Index (BASFI)	PRO	Full	Adult	Dressing (1 item) Bending (1 item) Reaching (1 item) Standing from seated position (1 item) Standing from lying position (1 item) Standing unsupported (1 item) Climbing steps (1 item) Turning body (1 item) Physical activities (1 item) Everyday activities (1 item)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA	Link
Behavior Rating Inventory of Executive Function® (BRIEF®)	PRO or ObsRO	Full	Pediatric Adolescent	Inhibit Shift Emotional Control Initiate Working Memory Plan/Organize Organization of Materials Monitor	Not applicable	Not applicable	Not applicable	Not applicable	Link
Behçet's disease Quality of Life (BD-QoL)	PRO	Full	Pediatric Adolescent Adult Aged	Quality of life	Behçet disease	ORPHA:117	Rare systemic or rheumatologic disease	ERN RITA	Link
Beliefs about Medicines Questionnaire (BMQ)	PRO	Full	Adult	BMQ-Specific - Specific-Necessity (5 items): beliefs about the necessity of prescribed medication BMQ-Specific - Specific-Concerns (5 items): concerns about prescribed medication based on beliefs about the danger of dependence and long-term toxicity and the disruptive effects of medication BMQ-General - General-Harm (4 items): beliefs that medicines are harmful, addictive, poisons which should not be taken continuously BMQ-General - General-Overuse (4 items): beliefs that medicines are overused by doctors	Not applicable	Not applicable	Not applicable	Not applicable	Link
Bladder Exstrophy Epispadias Complex Quality of Life Questionnaire (BEEC-QOL )	PRO	No	Adult	No information	Exstrophy-epispadias complex	ORPHA:322	Rare urogenital disease	ERN eUROGEN
Borg Dyspnea Scale (Borg CR10 Scale®)	PRO	Full	Adult	Dyspnea (1 item)	Not applicable	Not applicable	Not applicable	Not applicable	Link
BREAST Q	PRO	Full	Adult	Augmentation Scales-Satisfaction with Breasts Breast Cancer Core Scales Mastectomy Scales Breast Conserving Therapy Scales Reconstruction Scales Reconstruction Scale Reconstruction Expectations Scales Reduction/Mastopexy Scales Utility Scales	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Brief Illness Perception Questionnaire (Brief IPQ)	PRO	Full	Pediatric Adolescent Adult	Consequences Timeline Personal control Treatment control Identity Concern Understanding Emotional responses Causal representation	Not applicable	Not applicable	Not applicable	Not applicable	Link
Canadian Hemophilia Outcomes - Kids' Life Assessment Tool (CHO-KLAT)	PRO or ObsRO	Basic	Caregiver Pediatric	Somatic symptoms physical functioning sleep disturbance stigma social functioning fear/resentment mood/behaviour restrictions treatment upset haemophilia concern energy level	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Charcot-Marie-Tooth Health Index (CMT-HI)	PRO	No	Adult	Mobility and ambulation Foot and ankle strength Balance Ability to due activities Hand and finger function Numbness Pain Fatigue Daytime sleepiness Emotional state Performance in social situations Cognitive function Heartburn Lower gastrointestinal function Hearing Breathing Ability to swallow Shoulder and arm function	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	ORPHA:166	Rare peripheral neuropathy	ERN EURO-NMD
Child Health Questionnaire (CHQ)	PRO or ObsRO	Full	Pediatric	Child/adolescents concepts-General health Child/adolescents concepts-change in health Child/adolescents concepts-physical functioning Child/adolescents concepts-bodily pain/discomfort Child/adolescents concepts-limitations in school, work, and activities with friends due to physical problems Child/adolescents concepts-limitations in school, work, and activities with friends due to emotional difficulties Child/adolescents concepts-limitations in school, work, and activities with friends due to behavioral difficulties Child/adolescents concepts-behavior Child/adolescents concepts-self esteem Child/adolescents concepts Parent/family concepts-emotional and time impact on the parent Parent/family concepts-limitations in family activities Parent/family concepts-family cohesion	Not applicable	Not applicable	Not applicable	Not applicable	Link
Childhood Health Assessment Questionnaire (CHAQ)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Dressing and Grooming Arising Eating Walking Hygiene Reach Grip Activities Discomfort	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link Link
Children's Dermatology Life Quality Index (CDLQI)	PRO	Full	Pediatric Adolescent	Symptoms and feelings (2 items) Leisure (3 items) School and holidays (1 item) Personnal relationships (2 items) Sleep (1 item) Treatment (1 item)	Not a Rare Disease	Not a Rare Disease	Rare skin disease Rare systemic or rheumatologic disease	ERN Skin ERN ReCONNET	Link
CLEFT-Questionnaire (CLEFT-Q)	PRO	Full	Pediatric Adolescent Adult	Appearance (7 themes: face, nose, nostrils, teeth, lips, jaws and cleft lip scar) Health-related quality of life (4 themes: psychological, social, school, speech distress) Facial function (2 themes: eating/drinking, speech)	Cleft lip/palate	ORPHA:199306	Rare systemic or rheumatologic disease	ERN CRANIO ITHACA	Link
Cochin 17-item Scleroderma Functional scale (CSF-17)	PRO	No	Adult Aged	Mobility (10 items) General tasks (7 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET
Cushing's disease quality of life instrument (CushingQoL)	PRO	Full	Adult Aged	Daily life emotional physical aspect	Cushing Syndrome	ORPHA:553	Rare endocrine disease	ERN Endo	Link
Cystic Fibrosis Quality of Life (CFQoL)	PRO	Full	Adolescent Adult	Physical functioning (10 items) Social functioning (4 items) Treatment issues (3 items) Chest symptoms (4 items) Emotional responses (8 items) Concerns for the future (6 items) Interpersonal relationships (10 items) Body image (3 items) Career concerns (4 items)	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Cystic Fibrosis Questionnaire (CFQ)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Physical functioning (CFQ 14+ / CFQ Child P) Role (CFQ 14+) Energy/Well-Being (CFQ 14+ / CFQ Child P) Emotions (CFQ 14+ / CFQ Child P) Performance at school (CFQ Child P) Social limitations (CFQ 14+) Body image (CFQ 14+ / CFQ Child P) Embarrassment (CFQ 14+) Eating disturbances (CFQ 14+ / CFQ Child P) Treatment burden (CFQ 14+ / CFQ Child P) Weight Respiratory symptoms Digestive symptoms Health perception	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Cystic Fibrosis Questionnaire-Revised (CFQ-R)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Physical functioning (CFQ 14+ / CFQ Child P) Role (CFQ 14+) Energy/Well-Being (CFQ 14+ / CFQ Child P) Emotions (CFQ 14+ / CFQ Child P) Performance at school (CFQ Child P) Social limitations (CFQ 14+) Body image (CFQ 14+ / CFQ Child P) Embarrassment (CFQ 14+) Eating disturbances (CFQ 14+ / CFQ Child P) Treatment burden (CFQ 14+ / CFQ Child P) Weight Respiratory symptoms Digestive symptoms Health perception	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Der Familien-Belastungs-Fragebogen (FABEL) - Impact on family scale	PRO	No	Pediatric	Financial Burden (4 items) refers to the economic consequences for the family Familial/Social Impact (9 items) concerns the disruption of social interaction Personal Strain (6 items) assesses the psychological burden experienced by the primary caretaker Mastery (5 items) refers to the coping strategies employed by the family	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable
Dermatology Life Quality Index (DLQI)	PRO	Full	Adolescent Adult	Symptoms and feelings (2 items) Daily activities (2 items) Leisure (2 items) Work and school (1 item) Personal relationships (2 items) Treatment (1 item)	Not a Rare Disease	Not a Rare Disease	Rare skin disease Rare systemic or rheumatologic disease	ERN Skin ERN ReCONNET	Link
Disability of the Arm Shoulder and Hand (DASH)	PRO	Full	Adult	Dash (30 items) Additional (8 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Disease Specific Module for Epilepsy (EM) - Proxy version (DISABKIDS EM)	PRO or ObsRO	Full	Pediatric Adolescent	Impact (5 items) Social (5 items) + 3 items on symptoms	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE	Link Link
Duchenne muscular dystrophy Upper Limb patient-reported outcome measure (DMD Upper Limb PROM)	PRO	No	Pediatric Adolescent	Food Self-care Household and environment Leisure and communication	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD
DUX25	PRO	No	No information	No nformation	No information	No information	Not applicable	Not applicable
EORTC - Breast Cancer Module (EORTC QLQ-BR23)	PRO	Full	Adult	Body image (4 items) Sexual functioning (2 items) Sexual enjoyment (1 item) Future perspective (1 item) Arm symptoms (3 items) Breast symptoms (4 items) Systemic therapy side effects (7 items) Upset by hair loss (1 item)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
EORTC - Core Questionnaire (EORTC QLQ-C30)	PRO	Full	Adult	Global health status/quality of life (2 items) Physical functioning (5 items) Role functioning (2 items) Emotional functioning (4 items) Cognitive functioning (2 items) Social functioning (2 items) Fatigue (3 items) Nausea and vomiting (2 items) Pain (2 items) Dyspnea (1 item) Insomnia (1 item) Appetite loss (1 item) Constipation (1 item) Diarrhea (1 item) Financial impact (1 item)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
EORTC - Hodgkin Lymphoma Module (EORTC QLQ-HL27)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (6 items) Physical condition/fatigue (4 items) Emotional impacts (6 items) Worrie/fears health and functioning (11 items)	Hodgkin lymphoma	ORPHA:98293	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
EORTC - Multiple Myeloma Module (EORTC QLQ-MY20)	PRO	Full	Adult	Disease symptoms (6 items) Side-effects of treatment (10 items) Future perspective (3 items) Body image (1 item)	Multiple Myeloma	ORPHA:29073	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
Epilepsy and Learning Disabilities Quality of Life (ELDQOL)	PRO	No	Pediatric Adolescent	Seizure severity Seizure-related injuries Antiepileptic drug side effects Behavior Mood Physical Cognitive Social functioning Parental concern Communication Overall quality of life Overall health	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE
Epworth Sleepiness Scale (ESS)	PRO	Full	Adult	Sleep	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
EQ-5D 3L, 5L, Youth	PRO	Full	Pediatric Adolescent Adult	Mobility (1 item) Looking after myself (1 item) Doing usual activities (1 item) Having pain or discomfort (1 item) Feeling worried, sad or unhappy (1 item) + 1 additional VAS scale	Not applicable	Not applicable	Not applicable	Not applicable	Link Link Link
Esophageal-Atresia-Quality-of-life Questionnaire (EA-QOL)	PRO	No	Pediatric Adolescent	Children 2-7 years old (parent report)-Physical health & treatment Children 2-7 years old (parent report)-Eating Children 2-7 years old (parent report)-Social isolation & stress Children 8-17 years old (child report)-Eating Social relationships Children 8-17 years old (child report)-Body perception Children 8-17 years old (child report)-Health & wellbeing	Esophageal atresia	ORPHA:1199	Rare gastroenterologic disease	ERNICA
European League Against Rheumatism (EULAR) Sjögren syndrome Patient-Reported Index (ESSPRI)	PRO	Full	Adult	Dryness (1 item) Pain (1 item) Fatigue (1 item)	Primary Sjögren syndrome	ORPHA:289390	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Everyday Task Questionnaire	PRO	No	No information	No nformation	No information	No information	Not applicable	Not applicable
FACE-Q	PRO	Full	Adult	Facial Appearance Health-Related Quality of Life Adverse Effects Process of Care	Not a Rare Disease	Not a Rare Disease	Rare maxillo-facial surgical disease	Not applicable	Link
FACE-Q Craniofacial Module	PRO	No	Adult	Appearance (Eyes, Face, Forehead, Lips, Smile) Function (Breathing, Eating, Eyes, Facial, Speech) Adverse effects (Eyes, Face) HRQuality of life (Appearance Distress, Psychological, Social, School, Speech Distress)	Not a Rare Disease	Not a Rare Disease	Rare maxillo-facial surgical disease	Not applicable
FACIT-F	PRO	Full	Adult	Physical Well-being (7 items) Social / Family Well-being (7 items) Emotional Well-being (6 items) Functional Well-being (7 items) Fatigue subscale (13 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
FACIT-Fatigue	PRO	Full	Adult	Fatigue (13 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
FACT - Bone Marrow Transplantation (FACT-BMT)	PRO	Full	Adult	Physical Well-being (PWB) (7 items) Social / Family Well-being (SWB) (7 items) Emotional Well-being (EWB) (6 items) Functional Well-being (FWB) (7 items) Additional concern items (Bone Marrow Transplantation subscale, BMTS) (23 items)	Not a Rare Disease	Not a Rare Disease	Rare disorder potentially indicated for transplant or complication after transplantation	ERN TRANSPLANT-CHILD	Link
Family Dermatology Life Quality Index (FDLQI)	PRO	Full	Caregiver Adult	Health-related Quality of Life (10 items)	Not a Rare Disease	Not a Rare Disease	Rare skin disease Rare systemic or rheumatologic disease	ERN Skin ERN ReCONNET	Link
Fatigue Severity Scale (FSS)	PRO	Full	Adolescent Adult	Fatigue (9 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Fecal Incontinence Quality of Life scale (FIQL)	PRO	Full	Adult	Lifestyle (10 items) Coping/behavior (9 items) Depression/self-perception (7 items) Embarrassment (3 items)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Female Sexual Function Index (FSFI)	PRO	Full	Adult	Desire (2 items) Arousal (4 items) Lubrication (4 items) Orgasm (3 items) Global satisfaction (3 items) Pain (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Fertigkeitenskala Münster Heidelberg (FMH) - Munster Heidelberg Abilities Scale	PRO	No	No information	No nformation	No information	No information	Not applicable	Not applicable
Fragebogen zum Körperbild/Body Image Questionnaire (FKB-20 / BIQ-20)	PRO	Full	Adult	Negative Evaluation of the Body (10 items):This scale focuses on satisfaction and dissatisfaction with physical appearance and on feelings of coherence and well-being with one’s own body Perception of Body Dynamics (10 items):This scale addresses the energetic aspects of the body image and comprises self-experienced strength, fitness, and health. Body image related aspects of sexuality are also included in this scale	Not applicable	Not applicable	Not applicable	Not applicable	Link
Functional Disability Inventory (FDI)	PRO or ObsRO	Basic	Pediatric Adolescent	Disability	Not applicable	Not applicable	Not applicable	Not applicable	Link Link
Functional Vision Questionnaire for Children and Young People (FVQ-CYP)	PRO	Basic	Pediatric Adolescent	Activity of daily living	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
General Self-Efficacy Scale (GSE)	PRO	Basic	Adult	Self-efficacy (10 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Generalized Anxiety Disorder - 7 (GAD-7)	PRO	Full	Adult	Anxiety (7 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Genetic Counseling Outcome Scale (GCOS-24)	PRO	Basic	Adult	Genetic Counseling	Not applicable	Not applicable	Rare genetic disease	Not applicable	Link
Genetic Syndromes Stressors Scale (GSSS)	PRO or ObsRO	No	Pediatric Adolescent	Parental stressors in relation to unusual genetic illnesses (14 items)	Rare genetic developmental defect during embryogenesis	ORPHA:183530	Rare genetic developmental defect during embryogenesis	ERN ITHACA
GNE myopathy- Functional activity scale (GNEM-FAS)	PRO	No	Adult	Mobility Upper extremity use Self-care	GNE myopathy	ORPHA:602	Rare neuromuscular disease	ERN EURO-NMD
Haemophilia Quality of Life Questionnaire for Adults (Haem-A-QoL)	PRO	Full	Adult	Physical health (5 items) Feeling (4 items) View of yourself (5 items) Sports and leisure (5 items) Work and school (4 items) Dealing with haemophilia (3 items) Treatment (8 items) Future (5 items) Family planning (4 items) Partnership and sexuality (3 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Hand scleroDerma lived Experience (HAnDE) scale	PRO	No	Adult Aged	No information	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET
Health Assessment Questionnaire (HAQ)	PRO	Full	Adult	Disability-Dressing and grooming (2 items) Disability-Arising (2 items) Disability-Eating (3 items) Disability-Walking (2 items) Disability-Hygiene (3 items) Disability-Reach (2 items) Disability-Grip (3 items) Disability-Common daily activities (3 items) Discomfort and pain (1 item) Global Health Assessment (1 item)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Health Assessment Questionnaire Disability Index (HAQ-DI)	PRO	Full	Adult	Disability-Dressing and grooming (2 items) Disability-Arising (2 items) Disability-Eating (3 items) Disability-Walking (2 items) Disability-Hygiene (3 items) Disability-Reach (2 items) Disability-Grip (3 items) Disability-Common daily activities (3 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Hidradenitis suppurativa Physical global assesment (HS-PGA)	PRO	No	Adult	Global assessment (1 item)	Not a Rare Disease	Not a Rare Disease	Rare skin disease	ERN Skin
Hospital Anxiety and depression scale (HADS)	PRO	Full	Adult	Anxiety (7 items) Depression (7 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Hypospadias-Specific Health-Related Quality of Life (HRQoL)	PRO	No	Pediatric Adolescent Adult	Penile appearance Voiding Social interaction Sexual health Psychological or behavioral function	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN
Impact of Vision Impairment–Very Low Vision Questionnaire (IVI-VLV)	PRO	No	Adult	Emotional Well-Being (12 items) Activities of Daily Living, Mobility, and Safety (16 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Impact on participation and autonomy questionnaire (IPA)	PRO	No	Adult	Autonomy indoors (7 items) Family role (7 items) Autonomy outdoors (5 items) Social life and relationships (7 items) Work and education (6 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable
Impact of NF1 on Quality Of Life questionnaire (INF1-QOL)	PRO	No	Adult	Vision Cosmetic appearance Pain (quality and intensity) Learning Problems Behaviour and Personality Mobility and Walking Hand Function Speech Bone Health Breathing Sleeping Role and Outlook on Life Depression and Anxiety	Neurofibromatosis type 1	ORPHA:636	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN PaedCan ERN ITHACA
Independent Mobility Questionnaire (IMQ)	PRO	No	Adult Aged	Ability for independent mobility	Retinitis Pigmentosa	ORPHA:791	Rare ophthalmic disorder	ERN EYE
Individualized Neuromuscular Quality of Life Questionnaire (INQoL)	PRO	Full	Adult	Weakness (3 items) Locking (3 items) Pain (3 items) Fatique (3 items) Activities (5 items) Independanence (3 items) Social relationships (10 items) Emotions (6 items) Body image (3 items) Perceived treatment effects (3 items) Expected treatment effects (3 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Inflammatory Rasch-built Overall Disability Scale (I-RODS)	PRO	No	Adult	No information	Chronic inflammatory demyelinating polyneuropathy	ORPHA:2932	Rare systemic or rheumatologic disease Rare peripheral neuropathy	ERN RITA ERN EURO-NMD
Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB)	ClinRO	No	Pediatric Adolescent	Disease severity	Epidermolysis bullosa simplex	ORPHA:304	Rare skin disease	ERN Skin
International Consultation on Incontinence Questionnaire - Urinary Incontinence Short Form (ICIQ-UI Short Form)	PRO	Full	Adult	Symptoms of urinary incontinence (2 items) Impact of urinary incontinence on everyday life (1 item) Perceived causes of urinary incontinence (1 item) (not scored)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
International Prostate Symptom Score (I-PSS)	PRO	Full	Adult	Symptoms (7 items) Impact of urinary symptoms on Quality of life (1 item)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
International Society on Thrombosis and Haemostasis/Scientific and Standardization Committee Bleeding Assessment Tool (ISTH BAT)	PRO	Basic	Pediatric Adolescent Adult	Epistaxis Cutaneous bleeding Minor cutaneous wound Oral cavity bleeding Hematemesis, melena, and hematochezia Hematuria Tooth extraction Surgical bleeding Menorrhagia Post-partum bleeding Muscle hematomas or hemarthrosis CNS bleeding Other bleeding symptoms	Rare hemorrhagic disorder	ORPHA:248308	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Interstitial Cystitis Symptom Index and Problem Index (ICSI-ICPI)	PRO	Full	Adult	(ICSI): Symptom Index (4 items) (ICPI): Problem Index (4 items)	Interstitial cystitis	ORPHA:37202	Rare urogenital disease	ERN eUROGEN	Link
Juvenile arthritis Multidimensional Activity Score (JAMAR)	PRO	no	Pediatric Adolescent	Well-being Pain Functional status Health-related quality of life Morning stiffness Disease activity Disease status and course Jjoint disease Extraarticular symptoms Side effects of medications Therapeutic compliance Satisfaction with illness outcome	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA
KIDSCREEN	PRO or ObsRO	Full	Pediatric Adolescent	KIDSCREEN-52-Physical Well-Being KIDSCREEN-52-Psychological Well-Being KIDSCREEN-52-Moods & Emotions KIDSCREEN-52-Self-Perception KIDSCREEN-52-Autonomy KIDSCREEN-52-Parent Relation & Home Life KIDSCREEN-52-Social Support & Peers KIDSCREEN-52-School Environment KIDSCREEN-52-Social Acceptance (Bullying) KIDSCREEN-52-Financial Resources KIDSCREEN-27-Physical Well-Being KIDSCREEN-27-Psychological Well-Being KIDSCREEN-27-Parents & Autonomy KIDSCREEN-27-Social Support & Peers KIDSCREEN-27-School Environment KIDSCREEN-10 Index-General HRQuality of life Index	Not applicable	Not applicable	Not applicable	Not applicable	Link
King’s Brief Interstitial Lung Disease Questionnaire (K-BILD)	PRO	Basic	Adult Aged	Breathlessness and activities Chest symptoms Psychological	Interstitial lung disease	ORPHA:182095	Rare respiratory disease	ERN LUNG	Link
King's Health Questionnaire (KHQ)	PRO	Full	Adult	General health perceptions (1 item) Incontinence impact (1 item) Role limitations (2 items) Physical limitations (2 items) Social limitations (2 items) Personal relationships (3 items) Emotions (3 items) Sleep/Energy (2 items) Severity measures (5 items) Symptom Severity Scale (10 symptoms + 1 "other" symptom that may be specified by the responder)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
KLIK (using LAST thermometer, quality of life questionnaires etc)	PRO	No	No information	No information	No information	No information	Not applicable	Not applicable
Leicester Cough Questionnaire (LCQ)	PRO	Full	Adult	Physical (8 items) Psychological (7 items) Social (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Living with Pulmonary Fibrosis (L-PF) Impacts Questionnaire (L-PF Impacts)	PRO	Full	Adult Aged	shortness of breath, cough and fatigue	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Lupus Impact Tracker (LIT)	PRO	NO	Adult	Quality of life	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET
Lupus Patient-Reported Outcome tool (LupusPRO)	PRO	Full	Adult	Lupus symptoms (3 items) Cognition (2 items) Lupus medications (2 items) Procreation (2 items) Physical health (5 items) Pain-vitality (5 items) Emotional health (6 items) Body image (5 items) Desires/Goals (4 items) Social support (2 items) Coping (3 items) Satisfaction with care (4 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Lupus Quality Of Life (LupusQoL)	PRO	Full	Adult	Physical health (8 items) Emotional health (6 items) Body image (5 items) Pain (3 items) Planning (3 items) Fatigue (4 items) Intimate relationships (2 items) Burden to others (3 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Lymphoedema Functioning, Disability and Health Questionnaire for Lower Limb Lymphoedema (Lymph-ICF-LL)	PRO	No	Adult Aged	Physical function Mental function General tasks/household activities Mobility activities Life domains/social life	Not a Rare Disease	Not a Rare Disease	Primary lymphedema	VASCERN
Medication Adherence Rating Scale (MARS)	PRO	Full	Adult	Medication adherence behaviour (4 items) Subjects’ attitude to taking medication (4 items) Negative side-effects and attitudes to psychotropic medication (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Multidimensional Fatigue Inventory (MFI)	PRO	Full	Adult	General fatigue (4 items) Physical fatigue (4 items) Reduced activity (4 items) Reduced motivation (4 items) Mental fatigue (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Myasthenia Gravis Activities of Daily Living Profile (MG-ADL)	PRO	Full	Adult	Ocular functions (2 items) Oropharyngeal functions (3 items) Respiratory functions (1 item) Extremity functions (2 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Myasthenia Gravis Impairment Index (MGII)	PRO	Full	Adult	Patient reported items (22 items) Examination items (6 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Myasthenia Gravis Quality of Life 15-item Scale (MG-QoL15)	PRO	Full	Adult	Mobility (9 items) Symptoms (3 items) General contentment (1 item) Emotional well-being (2 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
MyeloProliferative Neoplasm - 10 (MPN-10)	PRO	No	No information	No information	Myeloproliferative neoplasm	ORPHA:98274	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN
Myositis Activities Profile (MAP)	PRO	Basic	Adult	Movement activities Activities or moving around Self-care activities Domestic activities	Polymyositis	ORPHA:732	Rare systemic or rheumatologic disease Rare neuromuscular disease	ERN ReCONNET ERN EURO-NMD ERN RITA	Link
Myositis Activities Profile (MAP)	PRO	Basic	Adult	Movement activities Activities or moving around Self-care activities Domestic activities	Dermatomyositis	ORPHA:221	Rare systemic or rheumatologic disease	ERN ReCONNET ERN RITA	Link
Myotonia behavioural scale (MBS)	PRO	No	Adult	Myotonia	Congenital myotonia	ORPHA:206973	Rare neuromuscular disease	ERN EURO-NMD
National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25)	PRO	Full	Adult	Global vision rating (1 item) Difficulty with near vision activities (3 items) Difficulty with distance vision activities (3 items) Limitations in social functioning due to vision (2 items) Role limitations due to vision (2 items) Dependency to others due to vision (3 items) Mental health symptoms due to vision (4 items) Driving difficulties (3 items) Limitations with peripheral (1 item) Color vision (1 item) Ocular pain (2 items) General health (1 item) (treated as a stand-alone item: not included in the global score)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Night Vision Questionnaires (NVQ-10)	PRO	No	Adult Aged	Vision impairment	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE
Neurofibromatosis 2 Impact on Quality of life (NFTI-QoL)	PRO	No	Adult Aged	Quality of life (8 items)	Neurofibromatosis type 2	ORPHA:637	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN CRANIO
Nontransfusion-dependent thalassemia - Patient-reported outcome (NTDT-PRO)	PRO	No	Adult	Tiredness Weakness Shortness of Breath, with or without Physical Activity	Beta-thalassemia	ORPHA:848	Rare anemia	ERN EuroBloodNet
Patient Acceptable Symptom State (PASS)	PRO	No	Adult	Patient Acceptable Symptom State (1 item)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA
Patient Health Questionnaire (PHQ)	PRO	Full	Adult	Eating disorder Somatoform disorder Depression Anxiety Alcohol usage Overall health	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Patient-Reported Outcomes – Common Terminology Criteria for Adverse Events (PRO-CTCAE)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Oral Gastrointestinal Respiratory Cardio/Circulatory Cutaneous Neurological Visual/Perceptual Attention/Memory Pain Sleep/Wake Mood Genitourinary Sexual Miscellaneous	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
Patient Activity of Daily Living scale for patients with Amyotrophic Lateral Sclerosis (PADL-ALS)	PRO	Full	Adult	Activity of Daily Living (15 items)	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure (pCMT-QoL)	PRO	No	Pediatric Adolescent	Physical complaints (fatigue, weakness, pain, or tremor, among others) Loss of function and ability to perform activities of daily living Physical activities	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	ORPHA:166	Rare peripheral neuropathy	ERN EURO-NMD
Pediatric Outcome Data Collecting Instrument (PODCI)	PRO or ObsRO	Full	Pediatric Adolescent	Upper extremity function (8 items) Physical function & sports (13 items) Transfers & mobility (11 items) Comfort (painfree) (3 items) Happy & satisfied (5 items) Expectations (8 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link Link
Pediatric quality of life inventory (PedsQL) 4.0 Generic Core Scales	PRO or ObsRO	Full	Pediatric Adolescent Adult	Physical functioning Emotional functioning Social functioning School functioning	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pediatric Quality of Life Inventory™ Cancer Module	PRO or ObsRO	Full	Pediatric Adolescent Adult	Pain and Hurt (2 items) Nausea (3 items) Procedural Anxiety (3 items) Treatment Anxiety (3 items) Worry (3 items) Cognitive Problems (Toddlers: 3 items Young children: 4 items Children, Teens and Young adults: 5 items) Perceived Physical Appearance (3 items) Communication (3 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
PedsQL epilepsy module	PRO or ObsRO	Full	Pediatric Adolescent Adult	Impact (Toddlers: 6 items Young children: 8 items All the others: 9 items) Cognitive functioning (Toddlers: 5 items All the others: 6 items) Sleep/fatigue (Toddlers: 2 items All the others: 3 items) Executive functioning (Toddlers: 4 items All the others: 6 items) Mood/behavior (5 items)	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE	Link
PedsQL multidimensional fatigue scale	PRO or ObsRO	Full	Pediatric Adolescent Adult	General fatigue (6 items) Sleep/Rest fatigue (6 items) Cognitive fatigue (6 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
PedsQL Neurofibromatosis Type 1 Module	PRO or ObsRO	Basic	Pediatric Adolescent Adult	Skin itch bother Skin sensations Pain Pain impact Pain management Cognitive functioning Speech Fine motor Balance Vision Perceived physical appearance Communication Worry Treatment anxiety Medicines Stomach discomfort Constipation Diarrhea	Neurofibromatosis type 1	ORPHA:636	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN PaedCan ERN ITHACA	Link
Pediatric Quality of Life Inventory™ 3.0 Neuromuscular Module (PedsQL™ 3.0 Neuromuscular Module)	PRO or ObsRO	Full	Pediatric Adolescent Adult	About My Neuromuscular Disease (17 items) Communication (0 to 3 items) About Our Family Resources (0 to 5 items)	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Pediatric Quality of Life Inventory™ 3.0 Neuromuscular Module (PedsQL™ 3.0 Neuromuscular Module)	PRO or ObsRO	Full	Pediatric Adolescent Adult	About My Neuromuscular Disease (17 items) Communication (0 to 3 items) About Our Family Resources (0 to 5 items)	Spinal Muscular Atrophy	ORPHA:70	Rare neuromuscular disease	ERN EURO-NMD	Link
PedsQL TM 1.0 Stem Cell Transplant Module	PRO or ObsRO	Full	Pediatric Adolescent	Pain and hurt (2 items) Fatigue (5 items) Nausea (4 items) Worry/anxiety about disease/treatment (Toddlers: 2 Young Children, Children: 10 Teens: 12 items) Nutritional problems (5 items) Thinking/remembering (4 items) Communication about disease/treatment (3 items) Other complaints (6 items)	Graft versus host disease	ORPHA:39812	Rare disorder potentially indicated for transplant or complication after transplantation	ERN TRANSPLANT-CHILD	Link
PedsQL TM 3.0 Transplant Module	PRO or ObsRO	Full	Pediatric Adolescent	About My Medicines I (9 items) About My Medicines II (8 items) My Transplant and Others (8 items) Pain and Hurt (3 items) Worry (7 items) Treatment Anxiety (4 items) How I Look (3 items) Communication (4 items)	Not a Rare Disease	Not a Rare Disease	Rare disorder potentially indicated for transplant or complication after transplantation	ERN TRANSPLANT-CHILD	Link
PedsQL TM Infant Scales	PRO or ObsRO	Basic	Pediatric	Physical Functioning Physical Symptoms Emotional Functioning Social Functioning Cognitive Functioning	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pelvic pain and Urgency/Frequency symptom scale (PUF)	PRO	Full	Adult	Symptoms (7 items) Bother (4 items) + 1 item not scored on sexuality status	Interstitial cystitis	ORPHA:37202	Rare urogenital disease	ERN eUROGEN	Link
Penn Acoustic Neuroma Quality-of-Life scale (PANQOL)	PRO	Basic	Adult	Hearing, Balance Facial expression Anxiety Vitality Pain General health	Vestibular schwannoma	ORPHA:252175	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN CRANIO	Link
Illness Cognition Questionnaire (ICQ)	PRO	Basic	Adult	Helplessness as a way of emphasizing the aversive meaning of the disease acceptance as a way to diminish the aversive meaning Perceived benefits as a way of adding a positive meaning to the disease	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Polycystic Liver Disease Questionnaire (PLD-Q)	PRO	Basic	Adult	Symptoms	Isolated polycystic liver disease	ORPHA:2924	Rare hepatic disease	ERN RARE-LIVER	Link
Perceived Social Support Questionnaire (F-SozU K-6)	PRO	no	Pediatric Adolescent Adult	Social Support (6 items)	Not applicable	Not applicable	Not applicable	Not applicable
Primary Biliary Cholangitis Questionnaire (PBC-40)	PRO	No	Adult Aged	Fatigue function Emotional function Social function Cognitive function General symptoms itch	Primary biliary cholangitis	ORPHA:186	Rare hepatic disease	ERN RARE-LIVER
PROMIS Fatigue 7a	PRO	Basic	Adult Aged	Fatigue	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
PROMIS Global Health	PRO	Full	Adult	Physical Health (4 items) Mental Health (4 items) + 2 single items about Social roles and General Health	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pain interference 6a	PRO	Full	Adult Aged	Activities of daily living and work cognition emotional function fun, recreation, and leisure sleep social function sitting, walking and standing	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS physical function (8b V2.0)	PRO	Full	Adult	Physical functioning (10 items)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA	Link
PROMIS Sleep Disturbance	PRO	Full	Adult	Sleep disturbances quality Satisfaction	Not a Rare Disease	Not a Rare Disease	Rare sleep disorder	Not applicable	Link
PROMIS Pediatric Profile-25 v2.0	PRO	Full	Pediatric	Physical Function Mobility (4 items) Anxiety (4 items) Depression Symptoms (4 items) Fatigue (4 items) Peer Relationships (4 items) Pain Interference (4 items) + 1 single item assessing pain intensity	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS-29	PRO	Full	Adult	Physical Function (4 items) Anxiety (4 items) Depression (4 items) Fatigue (4 items) Sleep Disturbance (4 items) Ability to Participate in Social Roles and Activities (4 items) Pain Interference (4 items) + 1 single item assessing pain intensity	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS-57	PRO	Full	Adult	Physical Function (8 items) Anxiety (8 items) Depression (8 items) Fatigue (8 items) Sleep Disturbance (8 items) Ability to Participate in Social Roles and Activities (8 items) Pain Interference (8 items) + 1 single item assessing pain intensity	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pyruvate Kinase Deficiency Diary (PKDD)	PRO	Basic	Adult	Energy-related symptoms (Tiredness at its worst Tired after finishing daily activities Energy level at beginning of the day Energy level at end of the day) Other anemia symptoms (Bone pain Shortness of breath) Appearance (Jaundice)	Hemolytic anemia due to red cell pyruvate kinase deficiency	ORPHA:766	Rare anemia	ERN EuroBloodNet	Link
Pyruvate Kinase Deficiency Impact Assessment (PKDIA)	PRO	Basic	Adult	Activities of daily living (Household activities, Starting things you wanted to get done, Finishing things you wanted to get) Appearance (Bothered by appearance) Cognitive (Difficulty concentrating) Leisure (Negative impact on leisure activities) Social (Negative impact on social activities, Relationships with friends or family negatively affected, Receiving unwanted attention) Physical (Difficulty performing moderate (eg, walking on an incline or up stairs) physical activity, Needing additional rest or sleep) Work/school Work/school performance	Hemolytic anemia due to red cell pyruvate kinase deficiency	ORPHA:766	Rare anemia	ERN EuroBloodNet	Link
QUAlity of Life Assessment in Spina bifida for Teenagers, Childern and Adults (QUALAS-T, QUALAS-C, QUALAS-A)	PRO or ObsRO	No	Pediatric Adolescent Adult	QUALAS-C-Esteem/Independence QUALAS-C-Bladder and Bowel QUALAS-A-Health/Relationships QUALAS-A-Esteem /Sexuality QUALAS-A-Bladder and Bowel QUALAS-T-Family/Independence QUALAS-T-Bladder and Bowel	Isolated spina bifida	ORPHA:823	Rare developmental defect during embryogenesis	ERN ITHACA
Quality of Life Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA)	PRO	Full	Adult	Quality of life	Pituitary deficiency	ORPHA:101957	Rare endocrine disease	ERN Endo	Link
Quality of life in epidermolysis bullosa questionnaire (QOLEB)	PRO	No	Pediatric Adolescent	Quality of life	Epidermolysis bullosa simplex	ORPHA:304	Rare skin disease	ERN Skin
Quality of Life Questionnaire for patients with Aplastic Anemia and/or Paroxysmal Nocturnal Hemoglobinuria (QLQ-AA/PNH)	PRO or ObsRO	Full	Adult	No information	Paroxysmal Nocturnal Hemoglobinuria	ORPHA:447	Rare anemia	ERN EuroBloodNet	Link
Quick Systemic Lupus Activity Questionnaire (Q-SLAQ)	PRO	No	Adult	Symptom Patient’s Global Disease Activity	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET
Rasch-built Overall Disability Scale (R-ODS)	PRO	Full	Adult	Activity Social participation	Chronic inflammatory demyelinating polyneuropathy	ORPHA:2932	Rare systemic or rheumatologic disease Rare peripheral neuropathy	ERN RITA ERN EURO-NMD	Link
Rasch-built Overall Disability Scale (R-ODS)	PRO	Full	Adult	Activity Social participation	Guillain-Barré syndrome	ORPHA:2103	Rare systemic or rheumatologic disease Rare peripheral neuropathy	ERN RITA ERN EURO-NMD	Link
Rasch-built Pompe-specific Activity scale (R-PAct)	PRO	Full	Adolescent Adult	Patient’s ability to carry out daily life activities Social participation	Glycogen storage disease due to acid maltase deficiency	ORPHA:365	Rare inborn error of metabolism Rare neuromuscular disease	MetabERN ERN EURO-NMD	Link
Rintala Score	PRO and ClinRO	No	Adult	fecal continence	Anorectal malformation	ORPHA:96346	Rare urogenital disease	ERN eUROGEN
Satisfaction with Appearance Scale (SWAP)	PRO	No	Adult	Subjective satisfaction with appearance social-behavioral impact of disfigurement	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable
Scleroderma Health Assessment Questionnaire (SHAQ)	PRO	Full	Adult	Dressing and grooming (2 items) Arising (2 items) Eating (3 items) Walking (2 items) Hygiene (3 items) Reach (2 items) Grip (3 items) Common daily activities (3 items) Pain severity (1 item) Global Heath Assessment (1 item) + 5 VAS Gastrointestinal (GI) (1 item) daily activities-Pulmonary (1 item) Raynaud's phenomenon (RP) (1 item) Digital ulcer (1 item) Patient global assessment of disease severity (1 item)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Scleroderma Skin Patient Reported Outcome (SSPRO)	PRO	Full	Adult	Physical Effects, PE (5 items) Physical Limitations, PL (4 items) Emotional Effects, EE (6 items) Social Effects, SE (3 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Self Assessment of Communication (SAC)	PRO	No	Adult	Communication	Not a Rare Disease	Not a Rare Disease	Rare deafness	ERN CRANIO
Self-Efficacy for Managing Chronic Disease (SEMCD)	PRO	Full	Adult	Self-Efficacy (6 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
SF 36	PRO	Full	Adult	Physical Functioning (PF) (10 items) Role-Physical (RP) (4 items) Bodily Pain (BP) (2 items) General Health (GH) (5 items) Vitality (VT) (4 items) Social Functioning (SF) (2 items) Role-Emotional (RE) (3 items) Mental Health (MH) (5 items) +1 item on Reported Health Transition	Not applicable	Not applicable	Not applicable	Not applicable	Link
Sickle Cell Pain Diary	PRO	Basic	Adolescent Adult	Pain	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Simple Measure of Impact of Lupus Erythematosus in Youngsters©-Child Report (SMILEY©-Child Report)	PRO	Full	Pediatric Adolescent	Effect on self (5 items) Limitations (8 items) Social (4 items) Burden of Systematic Lupus Erythematosus (7 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Sino-Nasal Outcome Test (SNOT-20)	PRO	Full	Adult	Nasal symptoms (5 items) Sleep function (4 items) Ear symptoms (3 items) General symptoms (5 items) Emotional consequences (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Short Inflammatory Bowel Disease Questionnaire (SIBDQ)	PRO	Full	Adult	Bowel symptoms (3 items) Systemic symptoms (2 items) Emotional function (3 items) Social function (2 items)	Not a Rare Disease	Not a Rare Disease	Rare inflammatory bowel disease	ERNICA	Link
Somatic Symptom Disorder - B Criteria Scale (SSD-12)	PRO	no	Adult	Somatic Symptom Disorder-Cognitive Somatic Symptom Disorder-Affective Somatic Symptom Disorder-Behavioral aspects	Not applicable	Not applicable	Not applicable	Not applicable
Somatic symptom scale-8 (SSS-8)	PRO	no	Adult	Somatic symptom burden	Not applicable	Not applicable	Not applicable	Not applicable
Specific Thalassemia Quality of Life Instrument (STQOLI)	PRO	No	Adult	Disease and symptoms (12 items) Chelation therapy (13 items: (5 items per os chelation therapy users, 5 items for subcutaneous chelation therapy users, and 3 common items)) Psychosocial impact (10 items) Transfusion impact (5 items)	Beta-thalassemia	ORPHA:848	Rare anemia	ERN EuroBloodNet
Spinal Muscular Atrophy Independence Scale - Upper Limb Module (SMAIS-ULM)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Upper limb daily activities (22 items)	Spinal Muscular Atrophy	ORPHA:70	Rare neuromuscular disease	ERN EURO-NMD	Link Link
St George’s Respiratory Questionnaire (SGRQ)	PRO	Full	Adult	Symptoms Activity Impacts on daily life	Sarcoidosis	ORPHA:735	Rare respiratory disease	ERN LUNG	Link
Strengths and Difficulties Questionnaire (SDQ)	PRO or ObsRO	No	Pediatric Adolescent Adult	Emotional symptoms Conduct problems Hyperactivity/inattention Peer relationship problems Prosocial behaviour	Not applicable	Not applicable	Not applicable	Not applicable
Systemic Lupus Activity Questionnaire (SLAQ)	PRO	Basic	Adult	Weight loss fatigue fevers oral ulcers malar rash photosensitivity vasculitis other rashes alopecia lymphadenopathy dyspnea chest pain Raynaud’s phenomenon abdominal pain paresthesia seizures stroke memory loss depression headaches myalgias muscle weakness arthralgias and joint swelling	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Lupus Erythematosus Quality of Life (L-QoL)	PRO	Full	Adolescent Adult	Systemic Lupus Erythematosus impact	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Lupus Erythematosus-Specific Quality-Of-Life scale (SLEQOL)	PRO	Full	Adult	Physical functioning (6 items) Activities (9 items) Symptoms (8 items) Treatment (4 items) Mood (4 items) Self-image (9 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
EULAR Systemic Sclerosis Impact of Disease (ScleroID)	PRO	Basic	Adult	Raynaud’s Phenomenon Hand function Pain Fatigue (being tired physically, but also mental fatigue, lack of energy) Upper gastrointestinal tract symptoms (e.g. swallowing difficulties, reflux, vomiting) Lower gastrointestinal tract symptoms (e.g. bloating, diarrhea, constipation, anal incontinence) Limitations of life choices and activities (e.g. social life, personal care, work) Body mobility Breathlessness Digital ulcers	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Sclerosis Quality of Life Scale (SSc-QoL)	PRO	Basic	Adult	function emotional sleep social pain	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Sclerosis Questionnaire (SySQ)	PRO	No	Adult	General symptoms musculoskeletal symptoms cardiopulmonary symptoms digestive tract symptoms	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET
Treatment Expectation Questionnaire (TEX-Q)	PRO	No	Adult	Treatment Expectation: Benefit expectations Harm expectations Process expectations and behavioural control expectations	Not applicable	Not applicable	Not applicable	Not applicable
Treatment of Autoimmune Bullous Disease Quality of Life (TABQOL)	PRO	Full	Adult Aged	Impact of immunosuppressive therapy (17 items)	Autoimmune bullous skin disease	ORPHA:79669	Rare skin disease	ERN Skin	Link
Treatment Satisfaction Questionnaire for Medication - 9 items (TSQM-9)	PRO	Full	Adult	Effectiveness (3 items) Convenience (3 items) Global satisfaction scale (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
University of California, Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract Instrument (UCLA SCTC GIT)	PRO	Basic	Adult	reflux distention/bloating diarrhea fecal soilage emotional well-being and social functioning	Scleroderma	ORPHA:801	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
The University of California, San Diego Shortness of Breath Questionnaire (SOBQ)	PRO	Full	Adolescent Adult	Severity of shortness of breath during specific ADLs (21 items) + 3 single items about limitations in daily life	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Upper Extremity Functional Index (UEFI)	PRO	Basic	Adult	Any of your usual work, housework, or school activities Your usual hobbies, recreational or sporting activities Lifting a bag of groceries to waist level Lifting a bag of groceries above your head Grooming your hair Pushing up on your hands (eg, from bathtub or chair) Preparing food (eg, peeling, cutting) Driving Vacuuming, sweeping or raking Dressing Doing up buttons Using tools or appliances Opening doors Cleaning Tying or lacing shoes Sleeping Laundering clothes (eg, washing, ironing, folding) Opening a jar Throwing a ball Carrying a small suitcase with your affected limb	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Urethral stricture surgery patient-reported outcome measure (USS PROM)	PRO	Full	Adult	Lower urinary tract symptoms (LUTS) (7 items) LUTS-specific quality of life (1 item) Overall HRQuality of life (6 items) Patient satisfaction (2 items)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Urethral Stricture Symptoms and Impact Measure (USSIM)	PRO	No	Adult	voiding sexual function	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN
Vision Impairment in Low Luminance Questionnaire (VILLQ)	PRO	No	Adult	Emotional well-being (4 items) reading and accessing information subscale (20 items) mobility and safety subscale (13 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE
Vision Related Activities of Daily Living (V-ADL)	PRO	No	No information	No information	No information	No information	Rare ophthalmic disorder	ERN EYE
Vision-related Quality of Life Questionnaire for Children and Young People (VQoL-CYP)	PRO	Basic	Adolescent Adult	Quality of life	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Visual Function Index (VF-14)	PRO	Full	Adult	Visual impairment (18 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Viswanathan 10 questionnaire	PRO	No	Adult	Visual Function (10 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE
Work Ability Index (WAI)	PRO	No	Adult	Work ability of employees	Not applicable	Not applicable	Not applicable	Not applicable
Work Environment Impact Scale (WEIS)	PRO	No	Adult	Physical space objects used in work social groups norms and perceptions of how work tasks are to be carried out	Not applicable	Not applicable	Not applicable	Not applicable
Work Productivity and Activity Impairment Questionnaire: General Health V2.0 (WPAI:GH 2.0)	PRO	Full	Adult	Work (5 items) Daily activities (1 item)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Patient Activation Measure (PAM)	PRO	Basic	Adult Aged	Self-manage Collaborate with Provider Maintain Function /Prevent Declines Access Appropriate and HighQuality Care	Not applicable	Not applicable	Not applicable	Not applicable	Link
Health Education Impact Questionnaire (heiQ™)	PRO	Full	Adult	Health directed behaviour (4 items) Positive and active engagement in life (5 items) Emotional well-being (6 items) Self monitoring and insight (7 items) Constructive attitudes and approaches (5 items) Skill and technique acquisition (5 items) Social integration and support (5 items) Health service navigation (5 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Pediatric Quality of Life Inventory™ Cancer Module (PedsQL™ Cancer Module)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Pain and Hurt (2 items) Nausea (3 items) Procedural Anxiety (3 items) Treatment Anxiety (3 items) Worry (3 items) Cognitive Problems (Toddlers: 3 items Young children: 4 items Children, Teens and Young adults: 5 items) Perceived Physical Appearance (3 items) Communication (3 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
SF-12	PRO	Full	Adult	Physical functioning (PF) (2 items) Role physical (RP) (2 items) Bodily pain (BP) (1 item) General health (GH) (1 item) Vitality (VT) (1 item) Social functioning (SF) (1 item) Role emotional (RE) (2 items) Mental health (MH) (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pediatric Quality of Life Inventory™ Neurofibromatosis Type 1 Module (PedsQL™ Neurofibromatosis Type 1 Module)	PRO	Full	Pediatric Adolescent Adult	Skin bother Pain Pain Impact Pain Management Cognitive functioning Speech Fine motors Balance Vision Communication Worry Treatment Medicines Stomach discomfort Constipation Diarrhea	Neurofibromatosis type 1	ORPHA:636	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN PaedCan ERN ITHACA	Link
Myasthenia Gravis Composite (MGC)	PRO	Full	Adult	ocular (physician examination - 3 items) bulbar (patient history - 3 items) respiratory (patient history - 1 item) neck (physician examination - 1 item) limb (physician examination - 2 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Ocular Treatment Index (OTI)	PRO	No	Caregiver	No information	Rare disorder with lens opacification	ORPHA:98640	Rare ophthalmic disorder	ERN EYE
Multidimensional Assessment of Fatigue (MAF)	PRO	No	Adult	Degree and severity Distress that it causes Timing of fatigue (over the past week, when it occurred and any changes) Impact on various activities of daily living (household chores, cooking, bathing, dressing, working, socializing, sexual activity, leisure and recreation, shopping, walking, and exercising)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA
EORTC Quality of Life Questionnaire - Chronic Lymphocytic Leukaemia Module (EORTC QLQ-CLL17)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (6 items) Physical condition/Fatigue (4 items) Worries/Fears health and functioning (7 items)	Hodgkin lymphoma	ORPHA:98293	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
EORTC Quality of Life Questionnaire - Chronic Lymphocytic Leukaemia Module (EORTC QLQ-CLL17)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (6 items) Physical condition/Fatigue (4 items) Worries/Fears health and functioning (7 items)	B-cell chronic lymphocytic leukemia	ORPHA:67038	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
EORTC Quality of Life Questionnaire - Chronic Lymphocytic Leukaemia Module (EORTC QLQ-CLL17)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (6 items) Physical condition/Fatigue (4 items) Worries/Fears health and functioning (7 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Brief Pain Inventory - Short form (BPI-SF)	PRO	Full	Adult	*Pain severity (4 items) Interference with physical function Interference with psychological functions/sleep Comparison of pain with other minor aches and pain (1 item) Pain medication or treatment used (1 item) Effectiveness of pain relief measures (1 item) Body figure (front and back) to indicate location of pain (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Columbia-Suicide Severity Rating Scale (C-SSRS)	PRO and ClinRO	Full	Adult	Severity of Ideation (5 items) Intensity of Ideation (5 items for adults / 1 item for children) Suicidal Behavior (5 or 6 items depending on the version) Suicidal Behavior Lethality (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Pulmonary Arterial Hypertension-Symptoms and Impact Questionnaire (PAH-SYMPACT)	PRO	Full	Adult	Cardiopulmonary Symptoms (6 items) Cardiovascular Symptoms (5 items) 1 single item about oxygen use Physical Impacts (7 items) Cognitive/Emotional Impacts (4 items)	Pulmonary arterial hypertension	ORPHA:182090	Rare respiratory disease	ERN LUNG	Link
Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR)	PRO	Full	Adult	Overall symptoms [impairment]: 25 items Energy: 10 items Breathlessness: 8 items Mood (7 items) Functioning: 15 items Quality of life: 25 items	Not a Rare Disease	Not a Rare Disease	Rare pulmonary hypertension	ERN LUNG	Link
Minnesota Living with Heart Failure Questionnaire (MLHF)	PRO	Full	Adult	Physical functioning (8 items) Emotional functioning (5 items) Plus 8 items not included in the subscales but incorporated in the total score	Not a Rare Disease	Not a Rare Disease	Rare cardiac disease	ERN GUARD-HEART	Link
emPHasis-10	PRO	Full	Adult	Quality of life (10 items)	Not a Rare Disease	Not a Rare Disease	Rare pulmonary hypertension	ERN LUNG	Link
World Health Organization Quality of Life assessment instrument (WHOQOL-BREF)	PRO or ObsRO	Basic	Adult	Physical health Psychological Social relationships Environment	Not applicable	Not applicable	Not applicable	Not applicable	Link
Facioscapulohumeral muscular dystrophy-Health Index (FSHD-Health Index)	PRO	No	Adult	Mobility and ambulation Fine motor and distal arm weakness Proximal upper extremity and shoulder limitation Trunk weakness FSHD-specific activity impairment Emotional distress FSHD-specific impaired body image Cognitive impairment Social role dissatisfaction Social role limitations Fatigue Pain Communication difficulties/facial weakness Gustatory dysfunction	Facioscapulohumeral dystrophy	ORPHA:269	Rare neuromuscular disease	ERN EURO-NMD
Quality of Life in Neurological Disorders Item Bank v1.0 - Fatigue (Neuro-QoL Item Bank v1.0 - Fatigue)	PRO	Basic	Adult	Fatigue	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Living with Idiopathic Pulmonary Fibrosis (L-IPF) Impacts Questionnaire (L-IPF Impacts)	PRO	Full	Adult Aged	Quality of life (20 items)	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Living with Idiopathic Pulmonary Fibrosis (L-IPF) Symptoms Questionnaire (L-IPF Symptoms)	PRO	Full	Adult Aged	Dyspnea (Shortness of Breath) (7 items) Cough (5 items) Energy (3 items)	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Juvenile Arthritis Disease Activity Score (JADAS-10/71/27)	PRO or ObsRO and ClinRO and Biomarker	Full	Pediatric Adolescent	Joint counts Physician's and Patient's/Parent's subjective assessment and ESR (Erythrocyte Sedimentation Rate)	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link Link
ANCA-Associated Vasculitis Patient-Reported Outcomes (AAV-PRO)	PRO	Full	Adult	Organ-specific symptoms (5 items) Systemic symptoms (4 items) Treatment side effects (5 items) Social and emotional impact (6 items) Concerns about the futur (5 items) Physical function (4 items)	Anti-neutrophil cytoplasmic antibody-associated vasculitis	ORPHA:156152	Rare systemic or rheumatologic disease	ERN RITA	Link
MyeloProliferative Neoplasm Symptom Assessment Form Total Symptom Score (MPN-SAF TSS)	PRO	Full	Adult	Early satiety Abdominal pain Abdominal discomfort Inactivity Headache Concentration problem Dizziness Numbness Insomnia Sad Mood Sexuality Problems Cough Night Sweats Itching Bone Pain Fever Weight Loss Quality of Life Fatigue	Myeloproliferative neoplasm	ORPHA:98274	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Pulmonary Arterial Hypertension Quality of Life (PAHQoL)	PRO	Full	Adult	Impairment (41 items) Functioning (17 items) Quality of life (36 items)	Pulmonary arterial hypertension	ORPHA:182090	Rare pulmonary hypertension	ERN LUNG	Link
Amyotrophic Lateral Sclerosis Assessment Scales - 40 items (ALSAQ-40)	PRO	Basic	Adult Aged	Eating and Drinking Communication ADL/independence Physical mobility Emotional Functioning	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Oswestry Disability Index (ODI)	PRO	Full	Adult	Pain (10 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Quality of Life in Occupational Therapy (Qual-OT)	PRO	Full	Adult	Closeness to others Self-achievement Health / Activity level Positive feelings Outlook Spiritual life Routine behavior	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Life Satisfaction Index for Adolescents (LSIA)	PRO	Full	Adolescent	General Well-Being (7 items) Interpersonal Relationships (7 items) Personal Development (7 items) Personal Fulfilment (7 items) Leisure and Recreation (7 items)	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Myasthenia Gravis Questionnaire (MGQ)	PRO	Full	Adult	Generalized domain (items 1-6, 8-12, 16): 21 items Bulbar domain (items 7,15): 2 items Ocular domain (items 13,14): 2 items	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Ferrans and Powers Quality of Life Index (QLI)	PRO	Full	Adult	Health and Functioning Psychological/Spiritual Social and Economic Family	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
QUALIVEEN (QUALIVEEN)	PRO	Full	Adult	Limitations (9 items) Constraints (8 items) Fears (8 items) Feelings (5 items) Quality of Life: 9 items	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Hemophilia-specific health-related quality of life questionnaire (A36 Hemofilia-QoL®)	PRO	Full	Adult	Physical health (8 items) Daily activities (4 items) Joint damage (3 items) Pain (2 items) Treatment satisfaction (2 items) Treatment difficulties (4 items) Emotional functioning (5 items) Mental health (3 items) Relationships and social activity (5 items) A36 Hemofilia-Quality of life Global Index	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
NERN eUROGENic Bowel Dysfunction score (NBD score)	PRO	Full	Adult	Frequency of bowel movements Headache, perspiration or discomfort before or during defecation Tablets against constipation Drops against constipation Time used for each defecation Frequency of digital stimulation or evacuation Frequency of faecal incontinence Medication against faecal incontinence Flatus incontinence Perianal skin problems	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable
Quality of Life E (QOL-E)	PRO	Full	Adult	General Health status / introduction (2 items, no dimension) Physical (4 items) Functional (3 items) Social (4 items) Sexual (2 items) Fatigue(7 items) Specific: MDS-related (7 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Systemic Lupus Erythematosus Quality of Life Questionnaire (LQoL)	PRO	Full	Adult	Quality of life (25 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Haemophilia age group-specific Quality of life questionnaire (QUAL HEMO)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Daily life and plans (15 items) Emotions and relations with others (11 items) Constraints/ Constraints linked to treatment (6 items) Acceptation (3 items) Relevance of information received (4 items) Reasons for concern (5 items) Professional life (6 items) Compliance (3 items) Physical limitations or limitations related (7 items) Awareness of disease (6 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Perception of Anticoagulant Treatment Questionnaire (PACT-Q)	PRO	Full	Adult	expectations of patients regarding their anticoagulant treatment Convenience (11 items) Burden of disease and treatment (2 items) Anticoagulant treatment satisfaction (7 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Quality of Life questionnaire for Patients with Atrial Fibrillation (AF-QOL18)	PRO	Full	Adult	Psychological (7 items) Physical (8 items) Sexual activity (3 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Huntington's Disease health-related Quality of Life questionnaire (HDQoL©)	PRO or ObsRO	Full	Adult	Physical and Cognitive Emotions and Self Services Cognitive Hopes and Worries Services Physical and Functional Mood State Self and Vitality	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Oral Health Related Quality of Life for patients with Hypodontia (OHRQoL Hypodontia)	PRO	Basic	Pediatric Adolescent	No information	Anodontia	ORPHA:99797	Rare odontologic disease	ERN CRANIO	Link
Myelofibrosis Symptom Assessment Form (MFSAF)	PRO	Full	Adult	MF-related symptoms	Myeloproliferative neoplasm	ORPHA:98274	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Hemophilia Well-Being Index (HWBI)	PRO	Full	Adult	Well-being (8 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Self-administered Computerized version of the BDI-TDI (SAC BDI-TDI)	PRO	Full	Adult	BDI-Functional impairment BDI-Magnitude of task BDI-Magnitude of effort TDI-Functional impairment TDI-Magnitude of task TDI-Magnitude of effort	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Pediatric Quality of Life Inventory™ Sickle Cell Disease Module (PedsQL™ Sickle Cell Disease Module)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Pain and Hurt (9 items) Pain Impact (10 items) Pain Management and Control (2 items) Worry I (5 items) Worry II (0 or 2 items) Emotions (2 items) Treatment (6 or 7 items) Communication I (3 items) Communication II (3 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Pediatric Quality of Life Inventory™ Duchenne Muscular Dystrophy Module (PedsQL™ Duchenne Muscular Dystrophy Module)	PRO or ObsRO	Basic	Pediatric Adolescent	Daily activities Treatment Worry Communication	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Center for Neurologic Study-Lability Scale (CNS-LS)	PRO	Full	Adult	Labile laughter (4 items) Labile tearfulness (3 items)	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL)	PRO or ObsRO	Full	Pediatric Adolescent Adult	Self-rated health status Child health status Headaches Stomach aches Tiredness Irritability/ Anger Aggressiveness Moodiness Sadness Anxiety Lack of concentration Slow thinking Trembling hands Emotional impact of PKU Practical impact of PKU Social impact of PKU Anxiety Financial impact of PKU Information on PKU Adherence to Phe-free protein supplements Management of Phe-free protein supplements Practical impact of Phe-free protein supplements Guilt if poor adherence to Phe-free protein supplements Impact of Phe-free protein supplements on family Taste - Phe-free protein Supplements Dietary protein restriction	Phenylketonuria	ORPHA:716	Rare inborn error of metabolism	MetabERN	Link
Cystic Fibrosis Respiratory Symptom Diary (CFRSD)	PRO	Full	Adolescent Adult	Symptoms (8 items) Emotional impact (4 items) Activity impact (4 items)	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
National Comprehensive Cancer Network Functional Assessment of CancerTherapy - Lymphoma Symptom lndex-18 (NFLymSI-18)	PRO	Full	Adult	Physical (9 items) Emotional (4 items) Treatment side effects subscale (3 items) Function and well-being subscale (2 items)	Lymphoma	ORPHA:223735	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Functional Assessment of Cancer Therapy - Lymphoma (FACT-Lym)	PRO	Full	Adult	Physical Well-being (7 items) Social / Family Well-being (7 items) Emotional Well-being (6 items) Functional Well-being (7 items) lymphoma-specific concerns (15 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Acromegaly Treatment Satisfaction Questionnaire (Acro-TSQ)	PRO	Basic	Adult Aged	Symptom Interference Treatment Convenience Injection Site Interference GI Interference Treatment Satisfaction and Emotional Reaction	Acromegaly	ORPHA:963	Rare endocrine disease	ERN Endo	Link
Daily Health Assessment Forms (DHAFs)	PRO	Basic	Adult	rash fatigue joint pain feeling of fever/chills and eye redness/pain	Cryopyrin-associated periodic syndrome	ORPHA:208650	Rare systemic or rheumatologic disease	ERN RITA	Link
Work Productivity and Activity Impairment: Lupus (WPAI:Lupus)	PRO	Full	Adult	absenteeism presenteeism overall work impairment activity impairment	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic lupus erythematosus Symptom Checklist (SSC)	PRO	Full	Adult	Symptoms (39 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Body Concealment Scale for Scleroderma (BCSS)	PRO	Full	Adult	Body Concealment (9 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
HemoLatin-QoL (HemoLatin-QoL)	PRO	Full	Adult	Pain (3 items) Physical functioning (6 items) Emotional functioning (6 items) Social functioning (5 items) Mental healh (4 items) Environment conditions (3 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Mastocytosis Quality of Life Questionnaire (MC-QoL)	PRO	Full	Adult	Symptoms (9 items) Social life/functioning (9 items) Emotions (6 items) Skin (3 items)	Systemic mastocytosis	ORPHA:2467	Rare tumor	ERN PaedCan ERN EURACAN ERN EuroBloodNet	Link
Angioedema Activity Score (AAS)	PRO	Full	Adult	Disease activity (6 items)	Hereditary angioedema	ORPHA:91378	Rare systemic or rheumatologic disease	ERN RITA	Link
Lung Cancer Symptom Scale-Mesothelioma (LCSS-Meso)	PRO or ObsRO	Full	Adult	Physical (6 items) Symptoms (5 items) Global Distress (1 item) Functional (1 item) Global Activity Status Overall Quality of Life (1 item) Global Quality of Life	Pleural mesothelioma	ORPHA:50251	Rare tumor	ERN EURACAN ERN LUNG	Link
Autosomal Dominant Polycystic Kidney Disease Pain and Discomfort Scale (ADPKD-PDS)	PRO	Full	Adolescent Adult	Dull kidney pain (8 items) Sharp/Severe kidney pain (4 items) Fullness/Discomfort (8 items)	Autosomal dominant polycystic kidney disease	ORPHA:730	Rare renal disease	ERN ERKNet	Link
Autosomal Dominant Polycystic Kidney Disease Impact Scale (ADPKD-IS)	PRO	Full	Adult	Physical (7 items) Fatigue (3 items) Emotional (4 items) + 4 unscored questions	Autosomal dominant polycystic kidney disease	ORPHA:730	Rare renal disease	ERN ERKNet	Link
Autosomal Dominant Polycystic Kidney Disease Urinary Impact Scale (ADPKD-UIS)	PRO	Full	Adult	Urinary frequency (4 items) Urinary urgency (4 items) Nocturia (3 items)	Autosomal dominant polycystic kidney disease	ORPHA:730	Rare renal disease	ERN ERKNet	Link
Bladder Pain/Interstitial Cystitis Symptom Score (BPIC-SS)	PRO	Full	Adult	Persistent urge to urinate (1 item) Necessity to urinate driven by bladder pain (2 items) Bother associated with daytime and nighttime frequency (2 items) Bladder pain and frequency (3 items)	Interstitial cystitis	ORPHA:37202	Rare urogenital disease	ERN eUROGEN	Link
Patient Perception and Preference for Haemophilia Treatment (HaemoPREF)	PRO	Full	Adult	Ease of using clotting factor treatment (4 items) Impact of clotting factor treatment (2 items) Risk associated with clotting factor treatment (3 items) Burden of clotting factor treatment (3 items) Influence of others on treatment choices (2 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Craig Handicap Assessment and Reporting Technique and Craig Handicap Assessment and Reporting Technique - Short form (CHART and CHART-SF)	PRO or ObsRO	Full	Adolescent Adult	Physical independence (2 items) Cognitive independence (10 or 2 items) Mobility (9 or 3 items) Occupation (8 or 6 items) Social Integration (4 or 2 items) Economic Self-sufficiency (5 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Atrial Fibrillation Impact Questionnaire (AFImpact)	PRO	Full	Adult	Vitality (7 items) Emotional distress (8 items) Sleep (3 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Functional Assessment of Cancer Therapy-Esophageal (FACT-E)	PRO	Full	Adult	Physical Well-being (8 items) Social / Family Well-being (7 items) Relationship with doctor (2 items) Emotional Well-being (6 items) Functional Well-being (7 items) concern items (17 items)	Carcinoma of esophagus	ORPHA:70482	Rare tumor	ERN EURACAN	Link
Atrial Fibrillation Effect on QualiTy-of-Life (AFEQT)	PRO	Full	Adult	Symptoms (4 items) Daily Activities (8 items) Treatment Concern (6 items) Treatment Satisfaction (2 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
MPS Health Assessment Questionnaire (MPS-HAQ)	PRO or ObsRO	Full	Adolescent Adult	Self-care (27 item) Eating/drinking (7 items) Dressing (9 items) Hygiene (11 items) Bathing (3 items) Grooming (2 items) Toothbrushing (2 items) Toileting (4 items) Mobility (12 items) Movement (7 items) Walking (3 items) Stair climbing (2 items) Caregiver assistance (13 items)	Mucopolysaccharidosis	ORPHA:79213	Rare inborn error of metabolism	MetabERN ERN ITHACA	Link
Quality of Life in Neurological Disorders (Neuro-QOL)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Not a Rare Disease	Not a Rare Disease	Rare epilepsy Rare neurodegenerative disease	ERN EpiCARE ERN-RND	Link
Quality of Life in Neurological Disorders (Neuro-QOL)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders (Neuro-QOL)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders - Short forms (Neuro-QOL SF)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Not a Rare Disease	Not a Rare Disease	Rare epilepsy Rare neurodegenerative disease	ERN EpiCARE ERN-RND	Link
Quality of Life in Neurological Disorders - Short forms (Neuro-QOL SF)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders - Short forms (Neuro-QOL SF)	PRO or ObsRO	Full	Adult	Anxiety Depression Fatigue Upper extremity function-Fine motor, ADL Lower extremity function-mobility Cognitive function Emotional and behavioural dyscontrol Positive affect and well-being Sleep disturbance Ability to participate in social roles and activities Satisfaction with Social Roles and Activities Stigma Communication End of life concerns Bowel function Urinary/bladder function Sexual function	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Spinal Cord Injury – Quality of Life (SCI-QOL)	PRO	Full	Adult	Bladder Management Difficulties (15 items) Bladder Complications (5 items) Bowel Management Difficulties (26 items) Pressure Ulcers (14 items) Pain Interference (25 items) Pan Behavior (7 items) Positive Affect & Well-being (28 items) Depression (28 items) Anxiety (25 items) Stigma (23 items) Resilience (21 items) Grief/Loss (17 items) Self-Evaluation (23 items) Psychological Trauma (19 items) Ability to Participate in Social Roles & Activities (27 items) Satisfaction with Social Roles & Activities (35 items) Independence/Autonomy (8 items) Ambulation (39 items) Basic Mobility (54 items) Fine Motor Function (36 items) Self Care (90 items) Wheelchair Mobility (56 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
HD-PRO-TRIAD™ (HD-PRO-TRIAD™)	PRO	Full	Caregiver Adult	Cognition (14 items) Emotional and Behavioral Dyscontrol (14 items) Motor Function (19 items)	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Hemophila-specific Quality of Life Questionnaire for Adults (Haemo-QoL-A)	PRO	Full	Adult	Physical functioning (9 items) Role functioning (11 items) Worry (5 items) Consequences of bleeding (7 items) Emotional Impact (6 items) Treatment concerns (3 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Haemo-SYM (Haemo-SYM)	PRO	Full	Adult	Pain (11 items) Bleeds (6 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Family Burden Ichthyosis questionnaire (FBI)	PRO	Full	Adult	Pain Daily life Familial and personal relationship Work Psychological impact	Ichthyosis	ORPHA:79354	Rare skin disease	ERN Skin	Link
Hand Disability In Systemic Sclerosis - Digital Ulcers (HDISS-DU)	PRO	Full	Adult	impact of systemic sclerosis-related digital ulcers on hand function	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Spinal Cord Injury – Quality of Life Short form (SCI-QOL SF)	PRO	Full	Adult	Bladder Management Difficulties (8 items) Bladder Complications (5 items) Bowel Management Difficulties (9 items) Pressure Ulcers (7 items) Pain Interference (10 items) Pan Behavior (7 items) Positive Affect & Well-being (10 items) Depression (10 items) Anxiety (9 items) Stigma (10 items) Resilience (8 items) Grief/Loss (9 items) Self-Evaluation (8 items) Psychological Trauma (8 items) Ability to Participate in Social Roles & Activities (10 items) Satisfaction with Social Roles & Activities (10 items) Independence/Autonomy (8 items) Ambulation (11 items) Basic Mobility (11 items) Fine Motor Function (9 items) Self Care (11 items) Wheelchair Mobility (10/9 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Pediatric version of the Quality of Life in Neurological Disorders (Pediatric Neuro-QOL)	PRO	Full	Pediatric	Anxiety (19 items) Depression (17 items) Anger (8 items) Fatigue (13 items) Upper extremity function (20 items) Lower extremity function (20 items) Applied cognition: General concerns (14 items) Sociability (Social relation – interaction with peers) (16 items) Stigma (18 items) Pain (10 items)	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Pediatric version of the Quality of Life in Neurological Disorders Short Form (Pediatric Neuro-QOL SF)	PRO	Full	Pediatric	Anxiety (8 items) Depression (8 items) Anger (8 items) Fatigue (11 items) Upper extremity function (20 items) Lower extremity function (20 items) Applied cognition: General concerns (7 items) Sociability (Social relation – interaction with peers) (8 items) Stigma (8 items) Pain (10 items)	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Mycosis Fungoides / Sezary Syndrome - Cutaneous T-cell lymphoma Quality of life (CTCL-QoL)	PRO	Full	Adult	Quality of life (12 items)	Sézary syndrome	ORPHA:3162	Rare tumor	ERN PaedCan ERN EURACAN ERN EuroBloodNet	Link
Huntington's Disease health-related Quality of LIFE (HDQLIFE)	PRO	Full	Adult	Anxiety Anger Depression Emotional & Behavioral Dyscontrol Positive Affect and Well-Being Lower Extremity Function/Mobility Upper Extremity Function/ADLs Applied Cognition-Executive Functioning Applied Cognition-General Concerns Stigma Ability to Participate in Social Roles and Activities Satisfaction with Social Roles and Activities Chorea (34 items) Difficulties with Speech (27 items) Difficulties with Swallowing (15 items) End of Life Issues Concern with Death and Dying (12 items) Meaning and Purpose (4 items)	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® (ASCQ-Me SF®)	PRO	Full	Adult	Pain episode (5 items) Frequency (2 items) Severity (3 items) Emotional impact (5 items) Social functioning impact (5 items) Pain impact (5 items) Stiffness impact (5 items) Sleep impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
M.D. Anderson Symptom Inventory - Acute Myeloid Leukemia / Myelodysplastic Syndromes (MDASI-AML/MDS)	PRO	Full	Adult	Pain Fatigue Nausea Disturbed sleep Distress/Feeling upset Shortness of breath Difficulty remembering Lack of appetite Drowsiness Dry mouth Sadness Vomiting Numbness/tingling Walking Activity Working (including housework) Relations with other people Enjoyment of life Mood AML/MDS specific symptoms (4 items) Feeling of malaise (not feeling well) Diarrhea (loose stools) Muscle weakness Skin problems	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
M.D. Anderson Symptom Inventory - Acute Myeloid Leukemia / Myelodysplastic Syndromes (MDASI-AML/MDS)	PRO	Full	Adult	Pain Fatigue Nausea Disturbed sleep Distress/Feeling upset Shortness of breath Difficulty remembering Lack of appetite Drowsiness Dry mouth Sadness Vomiting Numbness/tingling Walking Activity Working (including housework) Relations with other people Enjoyment of life Mood AML/MDS specific symptoms (4 items) Feeling of malaise (not feeling well) Diarrhea (loose stools) Muscle weakness Skin problems	Acute myeloid leukemia	ORPHA:519	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Quality of Life in Myelodysplasia Scale (QUALMS)	PRO	Full	Adult Aged	Physical burden (QUALMS-P) (14 items) Benefit finding (QUALMS-BF)(disease information and uncertainty) (3 items) Emotional Burden (QUALMS-E) (16 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Functional Assessment of Cancer Therapy - Multiple Myeloma (FACT-MM)	PRO	Full	Adult	Physical Well-being (7 items) Social / Family Well-being (7 items) Emotional Well-being (6 items) Functional Well-being (7 items) Multiple Myeloma Scale (14 items)	Multiple Myeloma	ORPHA:29073	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
MD Anderson Symptom Inventory - Chronic Graft-Versus-Host Disease module (MDASI-CGVHD)	PRO	Full	Adult	core symptoms (symptoms common across cancer types and treatments, 13 items) chronic Graft-Versus-Host Disease-specific symptoms (cGVHD, 5 items) + Interference with patient's daily functioning (6 items)	Graft versus host disease	ORPHA:39812	Rare disorder potentially indicated for transplant or complication after transplantation	ERN TRANSPLANT-CHILD	Link
MD Anderson Symptom Inventory - Gastrointestinal Stromal Tumor Module (MDASI-GIST)	PRO	Full	Adult	core symptoms (symptoms common across cancer types and treatments, 13 items) Gastrointestinal Stromal Tumors-specific symptoms (9 items) + Interference with patient's daily functioning (6 items)	Gastrointestinal stromal tumor	ORPHA:44890	Rare tumor	ERN EURACAN	Link
MD Anderson Symptom Inventory - Lung Cancer Module (MDASI-LC)	PRO	Full	Adult	Core symptoms (symptoms common across cancer types and treatments, 13 items) Lung Cancer-specific symptoms (3 items) + Interference with patient's daily functioning (6 items)	Small cell lung cancer	ORPHA:70573	Rare tumor	ERN EURACAN	Link
MD Anderson Symptom Inventory - Multiple Myeloma Module (MDASI-MM)	PRO	Full	Adult	Core symptoms (symptoms common across cancer types and treatments, 13 items) Multiple Myeloma-specific symptoms (7 items) + Interference with patient's daily functioning (6 items)	Multiple Myeloma	ORPHA:29073	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
MD Anderson Symptom Inventory - Thyroid Cancer Module (MDASI-Thy)	PRO	Full	Adult	Core symptoms (symptoms common across cancer types and treatments, 13 items) thyroid cancer-specific symptoms (6 items) + Interference with patient's daily functioning (6 items)	Thyroid carcinoma	ORPHA:100088	Rare tumor Rare endocrine disease	ERN EURACAN ERN PaedCan Endo-ERN	Link
Patient Preference Questionnaire (PPQ)	PRO	Full	Adult	Patient Preference/Mode of administration (4 items)	Follicular lymphoma	ORPHA:545	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
Patient Preference Questionnaire (PPQ)	PRO	Full	Adult	Patient Preference/Mode of administration (4 items)	B-cell non-Hodgkin lymphoma	ORPHA:171915	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Rituximab Administration Satisfaction Questionnaire (RASQ)	PRO	Full	Adult	Treatment satisfaction (2 items) Convenience (3 items) Physical impact (3 items) Psychological impact (5 items) Impact on activities of daily living (2 items) + 4 descriptive items scored separately	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Primary Sclerosing Cholangitis - PRO (PSC PRO)	PRO	Full	Adult	PSC Symptoms (13 items) Physical Function (4 items) Activities of Daily Living (4 items) Work Productivity (5 items) Role Function (4 items) Emotional Impact (4 items) Social/Leisure Impact (4 items) Quality of Life (4 items)	Primary sclerosing cholangitis	ORPHA:171	Rare hepatic disease	ERN RARE-LIVER	Link
Hereditary Angioedema Patient Reported Outcomes (HAE PRO)	PRO	Full	Adult	HAE symptoms, impacts, treatment requirements, healthcare resource use and loss of productivity caused by HAE attacks	Hereditary angioedema	ORPHA:91378	Rare systemic or rheumatologic disease	ERN RITA	Link
Spinal Cord Injury - Functional Index (SCI-FI)	PRO	Full	Adult	Ambulation (39 items) Basic Mobility (54 items) Fine Motor Function (36 items) Self-Care (90 items) Wheelchair Mobility (56 items) Manual wheelchair (41 items) Power wheelchair (15 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
King's Sarcoidosis Questionnaire (KSQ)	PRO	Full	Adult	General Health status (GHS) (10 items) Lung (6 items) Medication (3 items) Skin (3 items) Eyes (7 items)	Sarcoidosis	ORPHA:735	Rare respiratory disease	ERN LUNG	Link
Spinal Cord Injury–Functional Index short forms (SCI-FI SFs)	PRO	Full	Adult	Ambulation (11 items) Basic Mobility (11 items) Fine Motor Function (10 items) Self-Care (11 items) Wheelchair Mobility Manual wheelchair (10 items) Power wheelchair (10 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Spinal Cord Injury - Functional Index/Assistive Technology (SCI-FI/AT)	PRO	Full	Adult	Ambulation (29 items) Basic Mobility (41 items) Fine Motor Function (35 items) Self-Care (71 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Spinal Cord Injury - Functional Index/Assistive Technology Short Forms (SCI-FI/AT SFs)	PRO	Full	Adult	Ambulation (6 items) Basic Mobility (9 items) Fine Motor Function (8 items) Self-Care (9 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Jarad and Sequeiros Symptom Score Questionnaire (Jarad Score)	PRO	Full	Adult	Cough, sputum breathlessness fatigue	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Narcolepsy Severity Scale (NSS)	PRO	Full	Adult	Factor I (4 items on sleep paralysis and hallucinations) Factor II (8 items on excessive daytime sleepiness and nighttime sleep) Factor III (3 items on cataplexy)	Narcolepsy	ORPHA:2073	Rare sleep disorder	Not applicable	Link
Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)	PRO or ObsRO	Full	Pediatric Adolescent	Symptom-related (23 items) Pain associated with heat or exertion Pain associated with cold Abdominal pain and fatigue symptoms Outcome-Related (4 items)	Fabry disease	ORPHA:324	Rare inborn error of metabolism	MetabERN	Link
Work Productivity and Activity Impairment Questionnaire: Uveitis, Version 2.0 (WPAI:Uveitis v2.0)	PRO	Basic	Adult	Work productivity (6 items)	Uveitis	ORPHA:98715	Rare systemic or rheumatologic disease Rare ophthalmic disorder	ERN RITA ERN EYE	Link
Work Productivity and Activity Impairment Questionnaire: TTR Amyloidosis, Version 2.0 (WPAI:TTR Amyloidosis v2.0)	PRO	Basic	Adult	Work productivity	Hereditary ATTR amyloidosis	ORPHA:271861	Rare systemic or rheumatologic disease Rare cardiac disease	ERN GUARD-HEART	Link Link
Work Productivity and Activity Impairment Questionnaire: Mucopolysaccharidosis type VII, Version 2.0 (WPAI:MPS-VII-Caregiver v2.0)	PRO	Full	Caregiver	Work productivity	Mucopolysaccharidosis type 7	ORPHA:584	Rare inborn error of metabolism	MetabERN ERN ITHACA	Link
Work Productivity and Activity Impairment Questionnaire: Duchenne Muscular Dystrophy, Caregiver Version 2.0 (WPAI:DMD-CG)	PRO	Full	Caregiver	Work productivity	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Esophagus and Stomach Surgery Symptom Scale (ES4)	PRO	Full	Adult	Cervico-thoracic symptoms (7 items) Abdominal hypersensitivity symptoms (6 items) Abdominal distension symptoms (4 items) Diet-induced systemic symptoms (6 items)	Carcinoma of esophagus	ORPHA:70482	Rare tumor	ERN EURACAN	Link
Esophago-Gastric surgery and Quality of Dietary life (EGQ-D)	PRO	Full	Adult	Eating behaviour (8 items)	Carcinoma of esophagus	ORPHA:70482	Rare tumor	ERN EURACAN	Link
MyeloProliferative Neoplasm Symptom Assessment Form (MPN-SAF)	PRO	Full	Pediatric Adolescent Adult	Early satiety Abdominal pain Abdominal discomfort Inactivity Headache Concentration problem Dizziness Numbness Insomnia Sad Mood Sexuality Problems Cough Night Sweats Itching Bone Pain Fever Weight Loss Quality of Life Fatigue	Myeloproliferative neoplasm	ORPHA:98274	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Work Productivity and Activity Impairment Questionnaire plus Classroom Impairment Questionnaire: Hemophilia Specific (WPAI+CIQ:HS)	PRO	Basic	Adult	Work productivity (9 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Patient Reported Outcomes, Burdens and Experiences (PROBE)	PRO	Full	Pediatric Adolescent Adult	Section I: Demograpfique data (4 items) Section II: Patient‐reported outcomes—general health problems (11 items) Section III: Haemophilia-related health (9 items) Section IV: EQ-5D-5L and EQ-VAS, EuroQuality of life five dimension 5-level instrument (5 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Hemophilia Activities List (HAL)	PRO	Full	Adult	Lying down/ sitting/ kneeling / standing (8 items) Functions of the legs (9 items) Functions of the arms (4 items) Use of transportation (3 items) Self-care (5 items) Household tasks (6 items) Leisure activities (7 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Paediatric Haemophilia Activities List (PedHAL)	PRO or ObsRO	Full	Pediatric Adolescent	Sitting/ kneeling standing (10 items) Functions of the legs (11 items) Functions of the arm (6 items) Use of transportation (3 items) Self care (9 items) Household tasks (3 items) Leisure activities and sports (11 items) + Two unscored items on adaptation and using an aid	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Advanced Systemic Mastocytosis Symptom Assessment Form (advSM-SAF)	PRO	Full	Adult	Abdominal pain (1 item) Nausea (1 item) Spots (1 item) Itching (1 item) Flushing (1 item) Tiredness/Fatigue (1 item) Vomiting (2 items) Diarrhea (2 items)	Systemic mastocytosis	ORPHA:2467	Tumor of hematopoietic and lymphoid tissues	ERN PaedCan ERN EURACAN ERN EuroBloodNet	Link
Work Productivity and Activity Impairment Questionnaire: Spinal Muscular Atrophy, for Caregivers, Version 2 (WPAI:SMA-CG)	PRO	Basic	Caregiver	Work Productivity	Spinal Muscular Atrophy	ORPHA:70	Rare neuromuscular disease	ERN EURO-NMD	Link
Treatment Outcome Score (TOS)	PRO or ObsRO	Basic	Adult	Symptom complex identification at baseline severity assessment of each symptom complex at baseline response assessment at 4 and 24 h post-dosing	Hereditary angioedema	ORPHA:91378	Rare systemic or rheumatologic disease	ERN RITA	Link
Mean Symptom Complex Severity score (MSCS)	PRO or ObsRO	Basic	Adult	Symptom complex identification (patients identify where on the body symptoms are occurring) Severity assesment of each symptom complex	Hereditary angioedema	ORPHA:91378	Rare systemic or rheumatologic disease	ERN RITA	Link
Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale - Patient version (HS-FOCUS Patient version)	PRO	Full	Adolescent Adult	Walking/Standing (10 items) Reach/Grip (12 items) Sleeping (4 items) Schooling/Work (3 items) Activities (6 items) Breathing (6 items) Overall Function (6 items)	Mucopolysaccharidosis type 2	ORPHA:580	Rare inborn error of metabolism	MetabERN ERN ITHACA	Link
Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale - Shortened version - Patient version (Shortened HS-FOCUS - Patient version)	PRO	Full	Adolescent Adult	Walking/Standing (lower body) (4 items) Grip/reach (upper body) (6 items) School/ work (2 items) Activities (3 items) Breathing (3 items)	Mucopolysaccharidosis type 2	ORPHA:580	Rare inborn error of metabolism	MetabERN ERN ITHACA	Link
Patient Experiences and Satisfaction with Medications (PESaM)	PRO	Full	Adult	Idiopathic pulmonary fibrosis module (10 items) Atypical hemolytic uraemic syndrome module (12 items) Generic module (16 items) Patient expectation module (11 items)	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Cognitive Impact (ASCQ-Me® - Cognitive Impact)	PRO	Full	Adult	Cognitive Impact (15 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Emotional Impact (ASCQ-Me® - Emotional Impact)	PRO	Full	Adult	Emotional Impact (20 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Pain (ASCQ-Me® - Pain)	PRO	Full	Adult	Pain (13 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Sleep Impact (ASCQ-Me® - Sleep Impact)	PRO	Full	Adult	Sleep Impact (12 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Social Functioning Impact (ASCQ-Me® - Social Functioning Impact)	PRO	Full	Adult	Social functioning impact (17 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System® - Stiffness Impact (ASCQ-Me® - Stiffness Impact)	PRO	Full	Adult	Stiffness Impact (12 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Emotional Impact (ASCQ-Me SF® - Emotional Impact)	PRO	Full	Adult	Emotional Impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Pain Impact (ASCQ-Me SF® - Pain Impact)	PRO	Full	Adult	Pain impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Pain Episodes (ASCQ-Me SF® - Pain Episodes)	PRO	Full	Adult	Pain episodes (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Sleep Impact (ASCQ-Me SF® - Sleep Impact)	PRO	Full	Adult	Sleep Impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Social Functioning Impact (ASCQ-Me SF® - Social Functioning Impact)	PRO	Full	Adult	Social functioning impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Adult Sickle Cell Quality of Life Measurement Information System Short Form® - Stiffness Impact (ASCQ-Me SF® - Stiffness Impact)	PRO	Full	Adult	Stiffness Impact (5 items)	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Sickle Cell Disease Medical History Checklist (SCD-MHC)	PRO	Full	Adult	7 conditions usually secondary to SCD and 2 treatments indicative of severity	Sickle cell anemia	ORPHA:232	Rare anemia	ERN EuroBloodNet	Link
Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale - Shortened version - Parent version (Shortened HS-FOCUS - Parent version)	PRO	Full	Adult	Walking/Standing (lower body) (5 items) Grip/reach (upper body) (8 items) School/ work (2 items) Activities (2 items) Breathing (4 items)	Mucopolysaccharidosis type 2	ORPHA:580	Rare inborn error of metabolism	MetabERN ERN ITHACA	Link
Inhibitor-Specific Quality of Life with Aspects of Caregiver Burden (Adapted INHIB-QoL)	PRO	Full	Caregiver	Quality of life in haemophilia patients with inhibitors	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Plexiform neurofibromas Quality of Life measure (PlexiQoL)	PRO	Full	Adult	Quality of life (18 items)	Neurofibromatosis type 1	ORPHA:636	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN PaedCan ERN ITHACA	Link
Spinal Cord Injury Computer Adaptive Test (SCI-CAT)	PRO	Full	Adult	Mobility (193 items) Self-care (109 items) Communication (19 items) + Items related to sexual function (5 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Profile of Mood States - Phenylketonuria (PKU-POMS)	PRO	Full	Adolescent Adult	Activity (3 items) Anxiety (4 items) Confusion (3 items) Tiredness (3 items) Anger (3 items) Depression (4 items)	Phenylketonuria	ORPHA:716	Rare inborn error of metabolism	MetabERN	Link
Neurological Fatigue Index - Motor Neurone Disease (NFI-MND)	PRO	Full	Pediatric Adolescent Adult	Energy (6 items) Weakness (7 items) Summary scale (8 items)	Motor neuron disease	ORPHA:98503	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Item bank v1.0 – Upper Extremity Function – Fine Motor, ADL (Neuro-QoL Item Bank v1.0 – Upper Extremity Function – Fine Motor, ADL)	PRO or ObsRO	Full	Adult	Upper Extremity Function Fine Motor ADL	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Autoinflammatory diseases Activity Index Diary (AIDAI)	PRO or ObsRO	Full	Pediatric Adolescent Adult	disease activity (12 items)	Mevalonate kinase deficiency	ORPHA:309025	Rare systemic or rheumatologic disease Rare inborn error of metabolism	ERN RITA MetabERN	Link
Autoinflammatory diseases Activity Index Diary (AIDAI)	PRO or ObsRO	Full	Pediatric Adolescent Adult	disease activity (12 items)	Familial Mediterranean fever	ORPHA:342	Rare systemic or rheumatologic disease	ERN RITA ERN ERKNet	Link
Autoinflammatory diseases Activity Index Diary (AIDAI)	PRO or ObsRO	Full	Pediatric Adolescent Adult	disease activity (12 items)	Cryopyrin-associated periodic syndrome	ORPHA:208650	Rare systemic or rheumatologic disease	ERN RITA	Link
Autoinflammatory diseases Activity Index Diary (AIDAI)	PRO or ObsRO	Full	Pediatric Adolescent Adult	disease activity (12 items)	Hereditary periodic fever syndrome	ORPHA:324924	Rare systemic or rheumatologic disease	ERN RITA	Link
Brief Index of Lupus Damage (BILD)	PRO	Full	Adult	Ocular (2 items) Neuropsychiatric (4 items) Renal (1 items) Pulmonary (2 items) Cardiovascular (3 items) Peripheral Vascular (3 items) Gastrointestinal (2 items) Musculoskeletal (4 items) Skin (2 items) Premature gonad failure 10 (1 item) Diabetes (1 item) Malignancy (1 item)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Pain Assessed Acromegaly Symptom Questionnaire (PASQ)	PRO	Basic	Adult	headache excessive sweating joint pain fatigue soft-tissue swelling numbness or tingling of limbs general physical condition	Acromegaly	ORPHA:963	Rare endocrine disease	ERN Endo	Link
Quality of Life in Neurological Disorders Bank v2.0 - HDQLIFE - Chorea (Neuro-QoL Bank v2.0 - HDQLIFE - Chorea)	PRO	Full	Adult	physical activity participation Quality of life	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Bank v2.0 - HDQLIFE - Concern with Death and Dying (Neuro-QoL Bank v2.0 - HDQLIFE - Concern with Death and Dying)	PRO	Full	Adult	anxiety or worry related to thoughts about death and dying	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Bank v2.0 - HDQLIFE - Speech Difficulties (Neuro-QoL Bank v2.0 - HDQLIFE - Speech Difficulties)	PRO	Full	Adult	Difficulties in oral expression Difficulties in language production Difficulties in articulation General well-being	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Bank v2.0 - HDQLIFE - Swallowing Difficulties (Neuro-QoL Bank v2.0 - HDQLIFE - Swallowing Difficulties)	PRO	Full	Adult	Difficulties with swallowing or choking have on eating Overall well-being	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Item Bank v1.0 - Depression (Neuro-QoL Item Bank v1.0 - Depression)	PRO	Basic	Adult	Depression	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 - Emotional and Behavioral Dyscontrol (Neuro-QoL Item Bank v1.0 - Emotional and Behavioral Dyscontrol)	PRO	Basic	Adult	Emotional and Behavioral dyscontrol	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 - Lower Extremity Function - Mobility (Neuro-QoL Item Bank v1.0 - Lower Extremity Function - Mobility)	PRO	Basic	Adult	Lower Extremity Function - Mobility	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Pediatric Social Relationships - Interaction With Peers (Neuro-QoL Item Bank v1.0 - Pediatric Social Relationships - Interaction With Peers)	PRO	Basic	Pediatric Adolescent	Pediatric Social Relationships and interaction With Peers	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Pediatric Stigma (Neuro-QoL Item Bank v1.0 - Pediatric Stigma)	PRO	Basic	Pediatric Adolescent	Stigma	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Positive Affect And Well-Being (Neuro-QoL Item Bank v1.0 - Positive Affect And Well-Being)	PRO	Basic	Adult	Positive Affect Well-Being	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Stigma (Neuro-QoL Item Bank v1.0 - Stigma)	PRO	Basic	Adult	Stigma	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Item Bank v1.1 - Satisfaction With Social Roles and Activities (Neuro-QoL Item Bank v1.1 - Satisfaction With Social Roles and Activities)	PRO	Basic	Adult	Satisfaction With Social Roles and Activities	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Item Bank v2.0 - Cognitive Function (Neuro-QoL Item Bank v2.0 - Cognitive Function)	PRO	Basic	Adult	Cognitive function	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Item Bank v2.0 - Cognitive Function (Neuro-QoL Item Bank v2.0 - Cognitive Function)	PRO	Basic	Adult	Cognitive function	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Item Bank v2.0 - Pediatric Cognitive Function (Neuro-QoL Item Bank v2.0 - Pediatric Cognitive Function)	PRO	Basic	Pediatric Adolescent	Cognitive function	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v2.1 - Pediatric Fatigue (Neuro-QoL Item Bank v2.1 - Pediatric Fatigue)	PRO	Basic	Pediatric Adolescent	Fatigue	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Scale v1.0 - Communication (Neuro-QoL Scale v1.0 - Communication)	PRO	Basic	Adult	Communication	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Scale v2.0 - HDQLIFE - End of Life Planning (Neuro-QoL Scale v2.0 - HDQLIFE - End of Life Planning)	PRO	Full	Adult	End of Life Planning	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Bank v1.0 - Ability To Participate In Social Roles and Activities (Neuro-QoL Bank v1.0 - Ability To Participate In Social Roles and Activities)	PRO	Basic	Adult	Ability To Participate In Social Roles and Activities	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Bank v1.0 - Anxiety (Neuro-QoL Bank v1.0 - Anxiety)	PRO	Basic	Adult	Anxiety	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Ability to Participate in Social Roles and Activities (Neuro-QoL Short Form v1.0 - Ability to Participate in Social Roles and Activities)	PRO	Basic	Adult	Ability to Participate in Social Roles and Activities	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Anxiety (Neuro-QoL Short Form v1.0 - Anxiety)	PRO	Basic	Adult	Anxiety	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Depression (Neuro-QoL Short Form v1.0 - Depression)	PRO	Basic	Adult	Depression	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Emotional and Behavioral Dyscontrol (Neuro-QoL Short Form v1.0 - Emotional and Behavioral Dyscontrol)	PRO	Basic	Adult	Emotional and Behavioral dyscontrol	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Fatigue (Neuro-QoL Short Form v1.0 - Fatigue)	PRO	Basic	Adult	Fatigue	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Lower Extremity Function - Mobility (Neuro-QoL Short Form v1.0 - Lower Extremity Function - Mobility)	PRO	Basic	Adult	Lower Extremity Function - Mobility	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Pediatric Anxiety (Neuro-QoL Item Bank v1.0 - Pediatric Anxiety)	PRO	Basic	Pediatric Adolescent	Anxiety	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Pediatric Anxiety (Neuro-QoL Short Form v1.0 - Pediatric Anxiety)	PRO	Basic	Pediatric Adolescent	Anxiety	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.1 – Pediatric Depression (Neuro-QoL Item Bank v1.1 - Pediatric Depression)	PRO	Basic	Pediatric Adolescent	Depression	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.1 - Pediatric Depression (Neuro-QoL Short Form v1.1 - Pediatric Depression)	PRO	Basic	Pediatric Adolescent	Depression	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Item Bank v1.0 – Pediatric Anger (Neuro-QoL Short Form v1.0 - Pediatric Anger)	PRO	Basic	Pediatric Adolescent	Anger	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v2.1 - Pediatric Fatigue (Neuro-QoL Short Form v2.1 - Pediatric Fatigue)	PRO	Basic	Pediatric Adolescent	Fatigue	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v2.0 - Pediatric Cognitive Function (Neuro-QoL Short Form v2.0 - Pediatric Cognitive Function)	PRO	Basic	Pediatric Adolescent	Cognitive function	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.1 - Satisfaction with Social Roles and Activities (Neuro-QoL Short Form v1.1 - Satisfaction with Social Roles and Activities)	PRO	Basic	Adult	Satisfaction with Social Roles and Activities	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v2.0 - Cognitive Function (Neuro-QoL Short Form v2.0 - Cognitive Function)	PRO	Basic	Adult	Cognitive function	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Short Form v2.0 - Cognitive Function (Neuro-QoL Short Form v2.0 - Cognitive Function)	PRO	Basic	Adult	Cognitive function	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Pediatric Pain (Neuro-QoL Short Form v1.0 - Pediatric Pain)	PRO	Basic	Pediatric Adolescent	Pain	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Pediatric Social Relationships - Interaction with Peers (Neuro-QoL Short Form v1.0 - Pediatric Social Relationships - Interaction with Peers)	PRO	Basic	Pediatric Adolescent	Pediatric Social Relationships and interaction with Peers	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Pediatric Stigma (Neuro-QoL Short Form v1.0 - Pediatric Stigma)	PRO	Basic	Pediatric Adolescent	Stigma	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Positive Affect and Well-Being (Neuro-QoL Short Form v1.0 - Positive Affect and Well-Being)	PRO	Basic	Adult	Positive Affect and Well-Being	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Stigma (Neuro-QoL Short Form v1.0 - Stigma)	PRO	Basic	Adult	Stigma	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Sleep Disturbance (Neuro-QoL Short Form v1.0 - Sleep Disturbance)	PRO	Basic	Adult	Sleep Disturbance	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v1.0 - Upper Extremity Function - Fine Motor, Activity of Daily Living (Neuro-QoL Short Form v1.0 - Upper Extremity Function - Fine Motor, ADL)	PRO	Full	Adult	Upper Extremity Function-Fine Motor Upper Extremity Function-ADL	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease Rare epilepsy	ERN EURO-NMD ERN EpiCARE	Link
Quality of Life in Neurological Disorders Short Form v2.0 - HDQLIFE - Chorea 6a (Neuro-QoL Short Form v2.0 - HDQLIFE - Chorea 6a)	PRO	Full	Adult	Quality of life (6 items)	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Short Form v2.0 - HDQLIFE - Concern with Death and Dying 6a (Neuro-QoL Short Form v2.0 - HDQLIFE - Concern with Death and Dying 6a)	PRO	Full	Adult	Concern with Death and Dying	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Short Form v2.0 - HDQLIFE - Speech Difficulties 6a (Neuro-QoL Short Form v2.0 - HDQLIFE - Speech Difficulties 6a)	PRO	Full	Adult	Speech Difficulties	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Quality of Life in Neurological Disorders Short Form v2.0 - HDQLIFE - Swallowing Difficulties 6a (Neuro-QoL Short Form v2.0 - HDQLIFE - Swallowing Difficulties 6a)	PRO	Full	Adult	Swallowing Difficulties	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
Haemophilia Quality of Life Questionnaire Index (Haemo-QoL Index)	PRO or ObsRO	Full	Pediatric Adolescent	Quality of life (8 items)	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Childhood Arthritis Health Profile (CAHP)	PRO or ObsRO	Full	Pediatric Adolescent	Gross motor function Fine motor function Role activities	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link
Children's Arthritis Self-Efficacy (CASE)	PRO	Full	Pediatric Adolescent	Activity (4 items) Symptoms (4 items) Emotions (3 items)	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link
Duruöz Hand Index (DHI)	PRO or ObsRO	Full	Adult	Kitchen (8 items) Dressing (2 items) Hygiene (2 items) In the Office (2 items) Other (4 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Atrial Fibrillation Severity Scale (AFSS)	PRO	Full	Adult Aged	Frequency of episode duration of episode severity of episode	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Hemophilia Patient Satisfaction Scale (Hemo-Sat)	PRO	Full	Adult	Ease and convenience Efficacy Burden Specialist/nurses, Centre/Hospital General satisfaction with your treatment	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Patient Perspective of Arrhythmia Questionnaire (PPAQ)	PRO	Full	Adolescent Adult	Frequency and duration of SVT episodes (2 items) Presence and bothersomeness of symptoms (19 items) Impact on life (10 items) Restricted activity days (2 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
HDQLIFE Scale v2.0 - Meaning and Purpose (HDQLIFE Scale v2.0 - Meaning and Purpose)	PRO	Full	Adult	Meaning and Purpose	Huntington disease	ORPHA:399	Rare neurodegenerative disease	ERN-RND	Link
EORTC Quality of Life Questionnaire - Non Hodgkin Lymphoma High Grade Module (EORTC QLQ-NHL-HG29)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (7 items) Neuropathy (2 items) Physical condition/Fatigue (5 items) Emotional impacts (4 items) Worries/Fears health and functioning (11 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
EORTC Quality of Life Questionnaire - Non Hodgkin Lymphoma Low Grade Module (EORTC- QLQ-NHL-LG20)	PRO	Full	Adult	Symptom burden due to disease and/or treatment (4 items) Physical condition/Fatigue (4 items) Emotional impacts (4 items) Worries/Fears health and functioning (8 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
ABILHAND (ABILHAND)	PRO	Full	Adult Aged	Hand and upper limb (dis)ability	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Validated Hemophilia Regimen Treatment Adherence Scale – On-Demand (VERITAS-PRN)	PRO	Basic	Adult	Treating Timing Dosing Planning Remembering Communicating	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Amyotrophic Lateral Sclerosis Specific Quality of Life (ALSSQOL)	PRO	Full	Adult	Negative emotion (13 items) Interaction with people and the environment (11 items) Intimacy (7 items) Religiosity (4 items) Physical symptoms (6 items) Bulbar function (5 items)	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Amyotrophic Lateral Sclerosis Specific Quality of Life-Revised (ALSSQOL-R)	PRO	Full	Adult	Negative emotion (13 items) Interaction with people and the environment (11 items) Intimacy (7 items) Religiosity (4 items) Physical symptoms (6 items) Bulbar function (5 items)	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Lupus Damage Index Questionnaire (LDIQ)	PRO	Basic	Adult	Eyes Brain and Nerves Kidneys Lungs Heart Blood vessels Stomach and bowels Muscles and Bones Skin Menopause Diabetes Cancer	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Child's Version-Pediatric Rheumatology Quality of Life Scale (Child's Version-PRQL)	PRO	Full	Pediatric	Physical health (5 items) Psychosocial health (5 items)	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link
Raynaud’s Condition Score (RCS)	PRO	Full	Adult	Signs and symptoms (1 item)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Rheumatology Attitudes Index (RAI)	PRO	Full	Adult	psychological construct of learned helplessness (15 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Scleroderma Assessment Questionnaire (SAQ)	PRO	Full	Adult	Index of vascular status (4 items) Index of respiratory status (6 items) Index of Gastrointestinal status (5 items) Index of musculoskeletal status (8 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Scleroderma Functional Score (FS)	PRO or ObsRO	Basic	Adult	functional ability (11 items)	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Myeloma Patient Outcome Scale (MyPOS)	PRO	Basic	Adult	Symptoms & function Emotional response Healthcare support	Multiple Myeloma	ORPHA:29073	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
Sarcoidosis Assessment Tool (SAT)	PRO	Basic	Adult	Physical Functioning Satisfaction with Roles and Activities Pain Interference Sleep Disturbance Fatigue Sarcoidosis–Lung Concerns Sarcoidosis–Skin Concerns Sarcoidosis–Skin Stigma	Sarcoidosis	ORPHA:797	Rare respiratory disease	ERN LUNG	Link
St George’s Respiratory Questionnaire for Idiopathic Pulmonary Fibrosis (SGRQ-I)	PRO	Full	Adult	Symptoms Activity Impacts on daily life	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Systemic Lupus Erythematosus Questionnaire on Family Role Functioning (SLE-FAMILY)	PRO	Full	Adult	Fatigue (1 item) Activity participation (1 item) Mental health (1 item) Isolation (1 item) Love and intimacy (1 item) You/fulfilling family roles (FAMILY) (1 item)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Lupus Erythematosus Needs Questionnaire (SLENQ)	PRO	Full	Adult	Psychological/spiritual/existential Health services Health information Physical Social Daily living Employment/financial	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Disability and Impact Profile (DIP)	PRO	Full	Adult	Symptoms (3 items) Mobility (10 items) Self-care (6 items) Social activities (10 items) Communication (5 items) Psychological status (5 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Covid-19 Peritraumatic Distress Index- Cystic Fibrosis (CPDI-CF)	PRO	Full	Adult	anxiety depression specific phobias cognitive change avoidance and compulsive behaviour physical symptoms and loss of social functioning	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Arthritis Helplessness Index – 5 items (AHI-5 Helplessness)	PRO	Full	Adolescent Adult	Helplessness	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Ergonomic Assessment Tool for Arthritis (EATA)	PRO	Full	Adult	Self-assessment (40 items maximum) Consultation visit (59 items maximum)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Childhood Health Assessment Questionnaire - Child's Version (CHAQ-CV)	PRO	Full	Adolescent Adult	Dressing and Grooming Arising Eating Walking Hygiene Reach Grip Activities Discomfort	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link
Mouth Handicap in Systemic Sclerosis (MHISS)	PRO	Basic	Adult	Mouth Handicap	Systemic sclerosis	ORPHA:90291	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Parent's Arthritis Self-Efficacy Scale (PASE)	PRO	Basic	Caregiver	parents' self-efficacy for managing children's arthritis-related symptoms psychosocial health	Juvenile idiopathic arthritis	ORPHA:92	Rare systemic or rheumatologic disease	ERN RITA	Link
Patient Reported Outcome Spine Trauma (AOSpine PROST)	PRO	Full	Adult	Quality of life (19 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Evaluating Respiratory Symptoms™: Idiopathic Pulmonary Fibrosis (E-RS™: IPF)	PRO	Basic	Adult Aged	Chest Breathlessness Cough Sputum	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
A Tool to Assess Quality of Life in Idiopathic Pulmonary Fibrosis (ATAQ-IPF)	PRO	Basic	Adult Aged	Cough Dyspnea Forethought Sleep Mortality Exhaustion Emotional Well-being Spirituality Social Participation Finances Independence Sexual Health Relationships and Therapies	Idiopathic pulmonary fibrosis	ORPHA:2032	Rare respiratory disease	ERN LUNG	Link
Lupus Satisfaction Questionnaire (LSQ©)	PRO	Full	Adult	Satisfaction with current SLE treatments (25 items) Satisfaction with medical care (11 items) Satisfaction with insurance coverage (3 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Lupus Symptom Severity Diary (LSSD©)	PRO	Full	Adult	energy/vitality joint and muscle pain/stiffness/swelling flu-like symptoms cognition numbness/tingling skin symptoms and hair loss	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Systemic Lupus Erythematosus Impact Questionnaire (SIQ ©)	PRO	Full	Adult	Patients’ ability to make plans work physical functioning social functioning emotional functioning	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Amyotrophic Lateral Sclerosis Assessment Scales - 5 items (ALSAQ-5)	PRO	Basic	Adult Aged	Physical mobility ADL/independence Eating and drinking Communication Emotional reactions	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Plexiform Neurofibroma Pain Impact in Children & Adults	PRO	Basic	Pediatric Adolescent	Tumor-related pain intensity pain interference physical functioning	Neurofibromatosis type 1	ORPHA:636	Inherited cancer-predisposing syndrome	ERN GENTURIS ERN PaedCan ERN ITHACA	Link
Self International Society on Thrombosis and Haemostasis/Scientific and Standardization Committee Bleeding Assessment Tool (Self ISTH BAT)	PRO	Basic	Adolescent Adult Aged	Bleeding	Von Willebrand disease	ORPHA:903	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Pediatric Bleeding Questionnaire (PBQ)	PRO	Basic	Pediatric Adolescent	Bleeding	Von Willebrand disease	ORPHA:903	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Self-Administered Pediatric Bleeding Questionnaire (SPBQ)	PRO	Basic	Pediatric Adolescent	Bleeding	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Self-Administered Pediatric Bleeding Questionnaire (Self-PBQ)	PRO or ObsRO	Basic	Pediatric Adolescent	Bleeding	Von Willebrand disease	ORPHA:903	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
School Age Self-Pediatric Bleeding Questionnaire (School Age Self-PBQ)	PRO	Basic	Pediatric	Bleeding	Von Willebrand disease	ORPHA:903	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Cystic Fibrosis Abdomen-score (CFAbd-Score)	PRO	Basic	Pediatric Adolescent Adult	Thickened bowel wall Enlarged mesenteric lymph nodes Intussusception Appendiceal thickening Free fluid in the abdominal cavity Pancreatic cystosis Pancreatic lipomatosis Cholelithiasis Micro-gallbladder Coarse/Irregular hepatic parenchyma Nodular liver edge Periportal fibrosis Liver steatosis Decreased velocity of the portal vein (PV) Increased transient elastography (TE) Hepatomegaly Splenomegaly	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Visual Function and Corneal Health Status (V-FUCHS)	PRO	Basic	Adult Aged	Visual acuity (7 items) Glare or diurnal variation (8 items)	Fuchs endothelial corneal dystrophy	ORPHA:98974	Rare ophthalmic disorder	ERN EYE	Link
Effects of Youngsters’ Eyesight on Quality of Life (EYE-Q)	PRO or ObsRO	Basic	Pediatric Adolescent	Visual functioning (i.e., near, far, color, and night vision, photosensitivity, functionality, and visual aids) Visual-related Quality of life (i.e., medication use, activities, feelings)	Uveitis	ORPHA:98715	Rare systemic or rheumatologic disease Rare ophthalmic disorder	ERN RITA ERN EYE	Link
Duchenne Muscular Dystrophy Quality of Life Measure - Self Report (DMD QoL-Self Report)	PRO	Basic	Pediatric	Physical Autonomy Social relationship Identity Feelings and emotions	Duchenne muscular dystrophy	ORPHA:98896	Rare neuromuscular disease	ERN EURO-NMD	Link
Therapy Administration Satisfaction Questionnaire (TASQ)	PRO	Full	Adult	patients’ perceptions and satisfaction with therapy subcutaneous or therapy intravenous (12 items)	Non-Hodgkin lymphoma	ORPHA:547	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Pediatric Narcolepsy Severity Scale (NSS-P)	PRO	Full	Pediatric Adolescent	Sleep paralysis and hallucination (4 items) Daytime Sleepiness (5 items) Cataplexy (3 items) Refreshing effect of a sleep attack and nighttime sleep (2 items)	Narcolepsy	ORPHA:2073	Rare sleep disorder	Not applicable	Link
Narcolepsy Severity Scale for Clinical Trials (NSS-CT)	PRO	Full	Adult	Factor I (4 items on sleep paralysis and hallucinations) Factor II (8 items on excessive daytime sleepiness and nighttime sleep) Factor III (3 items on cataplexy)	Narcolepsy	ORPHA:2073	Rare sleep disorder	Not applicable	Link
Satisfaction Questionnaire with Intravenous or Subcutaneous Hemophilia Injection (SQ-ISHI)	PRO	Full	Adolescent Adult Aged	Injection discomfort Vein access difficulty Injection difficulty Injection worry Time consuming Bother Preparation difficulty Travel impact Daily activities impact Free time activity impact Taking treatment as prescribed Confidence to prevent bleeds Satisfaction with spontaneity Satisfaction with treatment half‐life Overall satisfaction	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
THYroid CANcer-Quality of Life (THYCA-QoL)	PRO	Full	Adult	Neuromuscular (3 items) Voice (2 items) Concentration (2 items) Sympathetic (2 items) Throat/mouth problems (3 items) Psychological (4 items) Sensory (2 items)	Thyroid carcinoma	ORPHA:100088	Rare tumor Rare endocrine disease	ERN EURACAN ERN PaedCan Endo-ERN	Link
Fabry Disease PRO (FD-PRO)	PRO	Full	Adult	Neuropathy parcel (8 items) Impairment parcel (3 items) + 5 items on other fabry symptoms sweating (1 item) Difficulty in engaging in activities (1 item)	Fabry disease	ORPHA:324	Rare inborn error of metabolism	MetabERN	Link
Spinal Cord Injury Secondary Conditions Scale (SCI-SCS)	PRO	Full	Adult	Joint and muscle pain Sexual dysfunction Spasticity Circulatory problems Bladder dysfunction Bowel dysfunction Contractures Urinary tract infections Autonomic dysreflexia Diabetes Postural hypotension Injury caused by loss of sensation Respiratory problems Pressure sores Heterotopic ossification	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
German Spinal Cord Injury Survey (GerSCI)	PRO	Basic	Adult	No ifnormation	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
International Spinal Cord Injury Survey (InSCI)	PRO	Basic	Adult	No ifnormation	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
EORTC Quality of Life Questionnaire - Tyroid Cancer (EORTC QLQ-THY34)	PRO	Basic	Adult	anxiety body image cramps discomfort in the head and neck dry mouth fatigue hair impact on job or education joint pain neuropathological problems restlessness shoulder functioning social support swallowing temperature tolerance voice and worries about important others	Thyroid carcinoma	ORPHA:100088	Rare tumor Rare endocrine disease	ERN EURACAN ERN PaedCan Endo-ERN	Link
Atrial Fibrillation-6 (AF6)	PRO	Full	Adult	Symptoms (6 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Goal Attainment Scaling for Haemophilia (GAS-Hēm)	PRO or ObsRO	Full	Pediatric Adolescent Adult	No ifnormation	Hemophilia	ORPHA:448	Rare hemorrhagic disorder	ERN EuroBloodNet	Link
Satisfaction with oral anticoagulants in patients with non-valvular atrial fibrillation (SAFUCA)	PRO	Full	Adult	Effectiveness (3 items) Convenience (3 items) International Normalized Ratio (INR) Screening Interference (4 items) Health-Related Quality of Life (HRQuality of life) Interference (6 items) Side effects (3 items) Medical Care (3 items) General Satisfaction (3 items)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
Dyspnea-ALS-Scale (DALS-15)	PRO	Full	Adult	Dyspnea (15 items)	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Amyotrophic Lateral Sclerosis Specific Quality of Life-Short Form (ALSSQOL-SF)	PRO	Full	Adult	Negative emotion (3 items) Interaction with people and the environment (4 items) Intimacy (4 items) Religiosity (2 items) Physical symptoms (5 items) Bulbar function (2 items) + 1 additional Quality of life item	Amyotrophic lateral sclerosis	ORPHA:803	Rare neuromuscular disease	ERN EURO-NMD	Link
Cystic Fibrosis - Impact Questionnaire (CF-IQ)	PRO	Full	Adolescent Adult	Control and burden of CF treatment impacts (6 items) Physical activity impacts (7 items) Social activity impacts (4 items) Emotional impacts (5 items) Work/school limitation impacts (3 items)	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Systemic Lupus Erythematosus Steroid Questionnaire (SSQ)	PRO	Basic	Adult	Steroid dose/duration (4 items) general impact (baseline burden 19 items) benefits (7 items) work/productivity (3 items) side effects (10 items) emotions (6 items) overall satisfaction (1 item)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Assessment of Life Habits - For children from birth to 4 years of age - 3.0 (LIFE-H - 0-4 - 3.0)	PRO or ObsRO	Full	Pediatric	Nutrition (7 items) Fitness (3 items) Personal Care (8 items) Communication (9 items) Housing (6 items) Mobility (3 items) Responsabilities (5 items) Interpersonal Relationships (5 items) Community Life (1 item) Education (4 items) Recreation (10 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For children from birth to 4 years of age - 3.0 (LIFE-H - 0-4 - 3.0)	PRO or ObsRO	Full	Pediatric	Nutrition (7 items) Fitness (3 items) Personal Care (8 items) Communication (9 items) Housing (6 items) Mobility (3 items) Responsabilities (5 items) Interpersonal Relationships (5 items) Community Life (1 item) Education (4 items) Recreation (10 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - For children 5 to 13 years, Long Form - 3.0 (LIFE-H - 5 to 13 - Long Form - 3.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (21 items) Fitness (8 items) Personal Care (35 items) Communication (21 items) Housing (28 items) Mobility (16 items) Responsabilities (15 items) Interpersonal Relationships (10 items) Community Life (2 items) Education (14 items) Employment (3 items) Recreation (24 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For children 5 to 13 years, Long Form - 3.0 (LIFE-H - 5 to 13 - Long Form - 3.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (21 items) Fitness (8 items) Personal Care (35 items) Communication (21 items) Housing (28 items) Mobility (16 items) Responsabilities (15 items) Interpersonal Relationships (10 items) Community Life (2 items) Education (14 items) Employment (3 items) Recreation (24 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - For children 5 to 13 years, Short Form - 3.0 (LIFE-H - 5 to 13 - Short Form - 3.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (4 items) Fitness (4 items) Personal Care (8 items) Communication (8 items) Housing (6 items) Mobility (4 items) Responsabilities (7 items) Interpersonal Relationships (6 items) Community Life (2 items) Education (6 items) Employment (1 items) Recreation (8 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For children 5 to 13 years, Short Form - 3.0 (LIFE-H - 5 to 13 - Short Form - 3.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (4 items) Fitness (4 items) Personal Care (8 items) Communication (8 items) Housing (6 items) Mobility (4 items) Responsabilities (7 items) Interpersonal Relationships (6 items) Community Life (2 items) Education (6 items) Employment (1 items) Recreation (8 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - General Long Form - 3.0 (LIFE-H General Long Form - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (17 items) Fitness (9 items) Personal Care (33 items) Communication (14 items) Housing (40 items) Mobility (18 items) Responsabilities (25 items) Interpersonal Relationships (14 items) Community Life (18 items) Education (13 items) Employment (12 items) Recreation (27 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - General Long Form - 3.0 (LIFE-H General Long Form - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (17 items) Fitness (9 items) Personal Care (33 items) Communication (14 items) Housing (40 items) Mobility (18 items) Responsabilities (25 items) Interpersonal Relationships (14 items) Community Life (18 items) Education (13 items) Employment (12 items) Recreation (27 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - General Short Form - 3.0 (LIFE-H General Short Form - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (4 items) Fitness (4 items) Personal Care (8 items) Communication (8 items) Housing (8 items) Mobility (5 items) Responsabilities (8 items) Interpersonal Relationships (7 items) Community Life (8 items) Education (2 items) Employment (8 items) Recreation (7 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - General Short Form - 3.0 (LIFE-H General Short Form - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (4 items) Fitness (4 items) Personal Care (8 items) Communication (8 items) Housing (8 items) Mobility (5 items) Responsabilities (8 items) Interpersonal Relationships (7 items) Community Life (8 items) Education (2 items) Employment (8 items) Recreation (7 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - General Short Version - 16 items - 3.0 (LIFE-H General Short Version - 16 items - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (1 item) Fitness (1 item) Personal Care (2 items) Communication (1 item) Housing (1 item) Mobility (2 items) Responsabilities (1 item) Interpersonal Relationships (1 item) Community Life (2 items) Education (1 item) Employment (2 items) Recreation (1 item)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - General Short Version - 16 items - 3.0 (LIFE-H General Short Version - 16 items - 3.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (1 item) Fitness (1 item) Personal Care (2 items) Communication (1 item) Housing (1 item) Mobility (2 items) Responsabilities (1 item) Interpersonal Relationships (1 item) Community Life (2 items) Education (1 item) Employment (2 items) Recreation (1 item)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - For children from birth to 4 years of age - 4.0 (LIFE-H - 0-4 - 4.0)	PRO or ObsRO	Full	Pediatric	Nutrition (6 items) Fitness (6 items) Personal Care (9 items) Communication (9 items) Housing (5 items) Mobility (11 items) Responsabilities (6 items) Interpersonal Relationships (6 items) Community Life (1 item) Education (3 items) Recreation (9 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For children from birth to 4 years of age - 4.0 (LIFE-H - 0-4 - 4.0)	PRO or ObsRO	Full	Pediatric	Nutrition (6 items) Fitness (6 items) Personal Care (9 items) Communication (9 items) Housing (5 items) Mobility (11 items) Responsabilities (6 items) Interpersonal Relationships (6 items) Community Life (1 item) Education (3 items) Recreation (9 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - For children from 5 to 13 years - 4.0 (LIFE-H - 5-13 - 4.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (6 items) Fitness (5 items) Personal Care (10 items) Communication (10 items) Housing (6 items) Mobility (13 items) Responsabilities (8 items) Interpersonal Relationships (8 items) Community Life (4 items) Education (7 items) Employment (3 items) Recreation (10 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For children from 5 to 13 years - 4.0 (LIFE-H - 5-13 - 4.0)	PRO or ObsRO	Full	Pediatric Adolescent	Nutrition (6 items) Fitness (5 items) Personal Care (10 items) Communication (10 items) Housing (6 items) Mobility (13 items) Responsabilities (8 items) Interpersonal Relationships (8 items) Community Life (4 items) Education (7 items) Employment (3 items) Recreation (10 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Assessment of Life Habits - For Teenagers, Adults and Seniors - 4.0 (LIFE-H - For Teenagers, Adults and Seniors - 4.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (7 items) Fitness (5 items) Personal Care (8 items) Communication (9 items) Housing (8 items) Mobility (13 items) Responsabilities (9 items) Interpersonal Relationships (7 items) Community Life (8 items) Education (6 items) Employment (8 items) Recreation (8 items)	Myelodysplastic syndrome	ORPHA:52688	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Assessment of Life Habits - For Teenagers, Adults and Seniors - 4.0 (LIFE-H - For Teenagers, Adults and Seniors - 4.0)	PRO or ObsRO	Full	Adolescent Adult Aged	Nutrition (7 items) Fitness (5 items) Personal Care (8 items) Communication (9 items) Housing (8 items) Mobility (13 items) Responsabilities (9 items) Interpersonal Relationships (7 items) Community Life (8 items) Education (6 items) Employment (8 items) Recreation (8 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Pediatric Quality of Life Inventory™ Spinal Cord Injury Module (PedsQL™ Spinal Cord Injury Module)	PRO or ObsRO	Basic	Pediatric Adolescent Adult	daily activities mobility bladder function bowel function pressure injury pain interference social participation worry bladder bowel worry social	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Disease Specific Module for Cystic Fibrosis (CFM) - Self-reported version (DISABKIDS CFM - SR version)	PRO	Full	Pediatric Adolescent	Impact (4 items) Treatment (6 items) + 3 items on symptoms	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Transition Readiness Assessment Questionnaire (TRAQ)	PRO	Basic	Pediatric Adolescent Adult	Appointment Keeping Tracking Health Issues Managing Medications Talking With Providers Managing Daily Activities	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Myasthenia Gravis Quality of Life 15-item Scale - Revised (MG-QoL15r)	PRO	Full	Adult	Quality of life (15 items)	Myasthenia gravis	ORPHA:589	Rare neuromuscular disease	ERN EURO-NMD	Link
Cleveland Global Quality of Life score (CGQL)	PRO	Basic	Adult	Current quality of life current quality of health current energy level	Familial adenomatous polyposis	ORPHA:733	Rare gastroenterologic disease	ERNICA ERN GENTURIS	Link
Hematology Patient Reported Symptom Screen (HPRSS)	PRO	Full	Adult Aged	Fatigue Pain Quality of life	Amyloidosis	ORPHA:69	Rare systemic or rheumatologic disease	ERN EuroBloodNet ERN RITA ERKNet ERN GUARD-HEART ERN EURO-NMD ERN TRANSPLANT-CHILD	Link
Cancer Treatment Survey (CaTS)	PRO	Full	Adult	Sensory/psychological concerns (14 items) Procedural concerns (11 items)	Lymphoma	ORPHA:223735	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN PaedCan ERN EURACAN	Link
Understanding the impact of achondroplasia on quality of life (ACHQoL)	PRO or ObsRO	Full	Pediatric Adolescent	No information	Achondroplasia	ORPHA:15	Rare systemic or rheumatologic disease	ERN BOND ERN ITHACA	Link
Achondroplasia Parent Experience Measure (APEM)	PRO	Full	Caregiver	Caretaking responsibilities (6 items) Emotional well-being (6 items) Family (2 items) Work (1 item)	Achondroplasia	ORPHA:15	Rare systemic or rheumatologic disease	ERN BOND ERN ITHACA	Link
RICE Bladder Symptom Impact Scale - 6 items (RICE BSI-6)	PRO	Basic	Adult	Interest in Life Feelings of Self-Worth Social Life Ability to Carry out Your Home Responsibilities Energy Level Moods	Interstitial cystitis	ORPHA:37202	Rare urogenital disease	ERN eUROGEN	Link
Alfred Wellness Score (AWESCORE)	PRO	Basic	Adult	Respiratory physical nutritional psychological general health	Cystic Fibrosis	ORPHA:586	Rare respiratory disease	ERN LUNG ERN TRANSPLANT-CHILD ERN RARE-LIVER	Link
Multiple Myeloma Symptom and Impact Questionnaire (MySIm-Q)	PRO	Basic	Adult Aged	Multiple Myeloma Symptoms (17 symptoms) Impacts (9 impacts)	Multiple Myeloma	ORPHA:29073	Tumor of hematopoietic and lymphoid tissues	ERN EuroBloodNet ERN EURACAN	Link
Patient Uncertainty Questionnaire-Rheumatology (PUQ-R)	PRO	Basic	Adult Aged	symptoms and flares (14 items) medication (11 items) trust in doctor (8 items) self-management (6 items) impact (10 items)	Systemic Lupus Erythematosus	ORPHA:536	Rare systemic or rheumatologic disease	ERN ReCONNET	Link
Spinal Cord Injury Functional Ambulation Profile (SCI-FAP)	PRO	Basic	Adult	walking and carrying a bag the Timed “Up & Go” Test walking while negotiating carpet, obstacles, stairs, a curb and a door	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Atrial Fibrillation Symptoms Questionnaire™ (AFSymp™)	PRO	Full	Adult	Heart symptoms (4 items) Tiredness (3 items) Chest discomfort (2 items) Dizziness (1 item) Shortness of breath (1 item)	Familial atrial fibrillation	ORPHA:334	Rare cardiac rythm disease	ERN GUARD-HEART	Link
DUX Questionnaire for lower extremity bone tumor (Bt-DUX)	PRO	Full	Adolescent Adult	Cosmetic (5 items) Social (5 items) Emotional (5 items) Physical function (5 items)	Extraskeletal Ewing sarcoma	ORPHA:370334	Rare tumor	ERN PaedCan ERN EURACAN	Link
SCI Exercise Self-Efficacy Scale (ESES)	PRO	Basic	Adolescent	Exercise Self-Efficacy (10 items)	Spinal cord injury	ORPHA:90058	Rare neurologic disease	Not applicable	Link
Glasgow Hearing Aid Benefit Profile (GHABP)	PRO	Full	Adult	Initial disability (8 items) Handicap (8 items) Hearing aid use (8 items) Hearing aid benefit (8 items) Residual disability (8 items) Satisfaction (8 items)	Not a Rare Disease	Not a Rare Disease	Rare deafness	ERN CRANIO	Link
Conners 3 Self Report Full Length (Conners 3-SR)	PRO	Full	Adolescent	Conners 3 Content Scales-Inattention Conners 3 Content Scales-Hyperactivity/Impulsivity Conners 3 Content Scales-Learning Problems Conners 3 Content Scales-Defiance/Aggression and Family Relations DSM-5 Symptoms Scales-ADHD inattentive DSM-5 Symptoms Scales-ADHD hyperactive-Impulsive DSM-5 Symptoms Scales-ADHD Combined DSM-5 Symptoms Scales-Conduct Disorder DSM-5 Symptoms Scales-Oppositional Defiant Disorder Validity Scale-Positive and Negative Impression Validity Scale-Inconsistency Index Anxiety and Depression Schoolwork/Grades Friendship/Relationship and Home Life Other Concerns and Strenghts/Skills	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Quality of Life Inventory® (QOLI®)	PRO	Full	Adolescent Adult	Health (2 items) Self-esteem (2 items) Goals and values (2 items) Money (2 items) Work (2 items) Play (2 items) Learning (2 items) Creativity (2 items) Helping (2 items) Love (2 items) Friends (2 items) Children (2 items) Relatives (2 items) Home (2 items) Neighborhood (2 items) Community (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Multiple Ability Self-Report Questionnaire (MASQ)	PRO	Full	Adult	Language (8 items) Visual-Perceptual Ability (6 items) Verbal Memory (8 items) Visual-Spatial Memory (8 items) Attention/Concentration (8 items)	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE	Link
Functional Reading Independence Index (FRI Index)	PRO	Full	Adult Aged	Functional reading independence (49 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
York Incontinence Perceptions Scale (YIPS)	PRO	Full	Adult	Factual knowledge about incontinence Beliefs about control over incontinence Coping Personnal efficacy Acceptance Perceived impact on the family	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Multidimensional Assessment of Thymic States (MATHYS)	PRO	Full	Adult	Emotional reactivity Cognition speed (thought processes) Psychomotor function Motivation Sensory perception	Not a Rare Disease	Not a Rare Disease	Rare neurologic disease with psychiatric involvement	ERN-RND	Link
Functional Assessment of Cancer Therapy - Cognitive function issues (FACT-Cog)	PRO	Full	Adult	Perceived cognitive impairments (20 items) Comments from others (4 items) Perceived cognitive abilities (9 items) Impact on quality of life (4 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Performance Scales for Multiple Sclerosis (PS-MS)	PRO	Full	Adult	Mobility Hand function Vision Fatigue Cognitive symptom Bladder / Bowel Sensory symptom Spasticity symptom	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
Beck Depression Inventory® - Second Edition (BDI®-II)	PRO	Full	Adolescent Adult	Cognitive-affective Somatic	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Inventory of Depressive Symptomatology (IDS-SR and IDS-C)	PRO	Full	Adult	Vegetative symptoms Cognitive changes Mood disturbance Endogeneous symptoms Anxiety symptoms	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Iowa Fatigue Scale (IFS)	PRO	Full	Adult	Cognitive (4 items) Fatigue (2 items) Energy (3 items) Productivity (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Sexual Function Questionnaire (SFQ)	PRO	Full	Adult	Desire (6 items) Arousal sensation (4 items) Arousal lubrication (2 or 4 items) Orgasm (3 items) Enjoyment (6 items) Pain (3 items) Partner relationship (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Abbreviated Sexual Function Questionnaire (ASFQ)	PRO	Full	Adult	Desire (6 items) Arousal sensation (4 items) Arousal lubrication (2 items) Arousal cognitive (2 items) Orgasm (3 items) Pain (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Cognitive and Affective Mindfulness Scale - Revised 12-item version (CAMS-R 12-item version)	PRO	Full	Adolescent Adult	Attention (3 items) Present focus (3 items) Awareness (3 items) Acceptance (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Cognitive and Affective Mindfulness Scale - Revised 10-item version (CAMS-R 10-item version)	PRO	Full	Adolescent Adult	Attention (3 items) Present focus (1 item) Awareness (3 items) Acceptance (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Personal Experiences Questionnaire (PEQ)	PRO	Full	Adult	Feelings for partner Sexual responsivity Sexual frequency Libido Vaginal distress/dyspareunia Partner problems	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Health and Work Questionnaire (HWQ)	PRO	Full	Adult	Own assessment (5 items) Other's assessment (6 items) Concentration/focus (4 items) Supervisor relations (2 items) Impatience/irritability (3 items) Work satisfaction (4 items) Personal life satisfaction (3 items) related to stress (1 item) Job control (1 item) Failure to finish tasks (1 item)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Depression Anxiety Stress Scales Short Form (DASS-21)	PRO	Full	Adult	Depression (7 items) Anxiety (7 items) Stress (7 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Depression Anxiety Stress Scales (DASS)	PRO	Full	Adult	Depression-Dysphoria (2 items) Depression-Hopelessness (2 items) Depression-Devaluation of life (2 items) Depression-Self-deprecation (2 items) Depression-Lack of interest/involvement (2 items) Depression-Anhedonia (2 items) Depression-Inertia (2 items) Anxiety-Autonomic arousal (5 items) Anxiety-Skeletal musculature effects (2 items) Anxiety-Situational anxiety (3 items) Anxiety-Subjective experience of anxious affect (4 items) Stress-Difficulty relaxing (3 items) Stress-Nervous arousal (2 items) Stress-Easily upset/agitated (3 items) Stress-Irritable/over-reactive (3 items) Stress-Impatience (3 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Perceived Deficits Questionnaire - Depression (PDQ-D)	PRO	Full	Adult	Attention/concentration (5 items) Retrospective memory (5 items) Prospective memory (5 items) Planning/organization (5 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Perceived Deficits Questionnaire (PDQ)	PRO	Full	Adult	A ttention/Concentration (5 or 1 items) Planning/Organization (5 or 2 items) Retrospective Memory (5 or 1 items) Prospective Memory (5 or 1 items)	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
Behavior Rating Inventory of Executive Function® - Self-Report Version (BRIEF®-SR)	PRO	Full	Adolescent	Inhibit Emotional Control Monitor Shift Working Memory Plan/Organize Organization of Materials Task Completion	Not applicable	Not applicable	Not applicable	Not applicable	Link
Behavior Rating Inventory of Executive Function® - Adult Version (BRIEF®-A)	PRO	Full	Adult	Inhibit Shift Emotional Control Self-Monitor Initiate Working Memory Plan/Organize Task Monitor Organization of Materials	Not applicable	Not applicable	Not applicable	Not applicable	Link
Functional Assessment of Multiple Sclerosis: Trial Outcome Index (FAMS-TOI)	PRO	Full	Adult	Mobility (7 items) Symptoms (7 items) Thinking/fatigue (9 items) Additional concerns (14 items)	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
Fallowfield's Sexual Activity Questionnaire (FSAQ)	PRO	Full	Adult	Sexual relationship status (3 items) Reasons for sexual inactivity (8 reasons listed) Sexual functioning (10 item) Pleasure from sexual intercourse (6 items) Discomfort during intercourse (2 items) Habit (1 item) Tiredness (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Brief Index of Sexual Functioning for Women (BISF-W)	PRO	Full	Adult	Thoughts/Desire (2 items) Arousal (2 items) Frequency of sexual activity (1 item) Receptivity/Initiation (3 items) Pleasure/orgasm (2 items) Relationship satisfaction (3 items) Problems affecting sexual function (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Apathy Inventory (AI)	PRO	Full	Aged	Emotional Blunting Lack of Initiative Lack of Interest	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
Medical Outcomes Study Sleep scale (MOS Sleep)	PRO	Full	Adult	Initiation (2 or items) Maintenance (2 or 1 items) Respiratory problems (2 or items) Quantity (1 item) Perceived adequacy (2 items) Somnolence (3 or 1 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Family Environment Scale (FES)	PRO	Full	Pediatric Adolescent Adult	Relationship (Cohesion, Expressiveness, Conflict) Personal growth (Independence, Achievement orientation, Intellectual-cultural orientation, Active-recreational orientation, Moral-religious emphasis) System maintenance (Organization, Control)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pain Response to Activity and Positioning (PRAP)	PRO	Full	Adult	Sitting, bending, driving, lying, coughing (7 items) Standing, walking, standing up (5 items) Handling heavy objects (3 items) Standing, walking, bending, lying on stomach, standing up, handling heavy objects (10 items) Sitting, driving, lying on back or side, coughing (5 items) Dealing with the location of leg pain (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Spinal Pain Independence Measure (SPIM)	PRO	Full	Adult	Mobility (5 items) Activity in sitting and standing positions (3 items) Activity indoors (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Arizona Sexual Experience Scale (ASEX)	PRO	Full	Adult	sexual drive (1 item) arousal (1 item) penile erectio or vaginal lubrificationn (1 item) ability to reach orgasm (1 item) satisfaction from orgasm	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Daily Activities of Infants Scale (DAIS)	PRO	Full	Pediatric	Feeding Bathing Dressing Carrying Quiet play Active play Outings Sleeping	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Instrumental Activities of Daily Living (IADL)	PRO	Full	Aged	Using the telephone Shopping Food preparation Housekeeping Laundry Mode of transportation Responsibility for own medications Ability to handle finances	Not applicable	Not applicable	Not applicable	Not applicable	Link
Walking Impairment Questionnaire (WIQ)	PRO	Full	Adult	Symptoms (7 items) Walking distance (7 items) Walking speed (4 items) Stair climbing (3 items)	Not a Rare Disease	Not a Rare Disease	Rare vascular disease	VASCERN	Link
Pulmonary Functional Status & Dyspnea Questionnaire-Modified (PFSDQ-M)	PRO	Full	Adult Aged	Activity domain (10 items) Dyspnea domain (15 items) Fatigue domain (15 items)	Not a Rare Disease	Not a Rare Disease	Rare respiratory disease	ERN LUNG	Link
Profile of Mood States - Short Form (POMS-SF)	PRO	Full	Adult	Tension-Anxiety (6 items) Depression-Dejection (8 items) Anger-Hostility (7 items) Vigor-Activity (6 items) Fatigue-Inertia (5 items) Confusion-Bewilderment (5 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Profile of Mood States (POMS)	PRO	Full	Adult	Tension-Anxiety (9 items) Depression-Dejection (15 items) Anger-Hostility (12 items) Vigor-Activity (8 items) Fatigue-Inertia (7 items) Confusion-Bewilderment (7 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
International Consultation on Incontinence Questionnaire-Female Lower Urinary Tract Symptoms - Long Form (ICIQ-FLUTS LF)	PRO	Full	Adult	Frequency Nocturia Urgency Urge urinary incontinence Bladder pain Frequency of urinary incontinence Stress urinary incontinence Unexplained urinary incontinence Amount of urinary leakage Hesitancy Straining to start urination Intermittency Nocturnal enuresis Strength of stream Urinary retention Dysuria Incomplete emptying Ability to stop urine flow	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
International Consultation on Incontinence Questionnaire Paediatric Lower Urinary Tract Symptoms (ICIQ-CLUTS)	PRO or ObsRO	Full	Pediatric Adolescent	Age and gender (2 items) Low urinary tract symptoms (9 items) Defecation frequency (1 item)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Weekly Record of Behavior (WRB)	PRO and ObsRO	Full	Caregivers Aged	Eating (2 behaviors) Bathing (1 behavior) Dressing (3 behaviors) Toileting (3 behaviors) Restless (2 behaviors) Mood & Anxiety (7 behaviors) Nap (1 behavior) Disruptive (9 behaviors) Memory (6 behaviors) Sleep (3 behaviors) Reality problems (3 behaviors) Positive behavior (4 behaviors)	Not a Rare Disease	Not a Rare Disease	Rare dementia	ERN-RND	Link
Fatigue Symptom Inventory (FSI)	PRO	Full	Adult	Severity (4 items) Frequency (2 items) General level of activity Ability to bathe and dress Normal work activity Ability to concentrate Relations with others Enjoyment of life Mood Diurnal variation (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Dutch Eating Behavior Questionnaire (DEBQ)	PRO	Full	Adolescent Adult	Emotional eating-Diffuse emotions (4 items) Emotional eating-Clearly labelled emotions (9 items) Restrained eating (10 items) External eating (10 items)	Not a Rare Disease	Not a Rare Disease	Genetic obesity	ERN Endo	Link
Dutch Eating Behavior Questionnaire - Child version (DEBQ-C)	PRO	Full	Pediatric	Emotional eating (7 items) Restrained eating (7 items) External eating (6 items)	Not a Rare Disease	Not a Rare Disease	Genetic obesity	ERN Endo	Link
Primary Care Evaluation of Mental Disorders (Clinician-administered version) (PRIME-MD (Clinician-administered version))	PRO and ClinRO	Full	Adult	Somatoform disorders Eating disorder Depression Anxiety Alcohol usage Overall health	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Epworth Sleepiness Scale-Alternative Version (ESS-ALT)	PRO	Full	Adult	Activities during which a subject has a chance of falling asleep (8 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Incontinence Symptom Index-Pediatric (ISI-P)	PRO	Full	Pediatric	Impairment stress urinary incontinence urge urinary incontinence insensate urinary incontinence nocturnal urinary incontinence pad use	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Male Urogenital Distress Inventory (MUDI)	PRO	Full	Adult	Stress symptoms (6 items) Irritative symptoms (5 items) Obstructive symptoms (6 items) Pain (3 items) Situational urgency (3 items) Contact urgency (2 items) Emotional urgency (2 items)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Well-Being Questionnaire (W-BQ)	PRO	Full	Adolescent Adult	Depression (6 items) Anxiety (6 items) Energy (4 items) Positive or Negative Well-being (6 items)	Not a Rare Disease	Not a Rare Disease	Rare diabetes mellitus	ERN Endo	Link
Urinary Symptom Profile (USP)	PRO	Full	Adult	Stress urinary incontinence (SUI) (3 items) Overactive bladder (OAB) (7 items) Low stream (LS) (3 items)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Parenting Stress Index, Fourth Edition (PSI?-4)	PRO	Full	Adult	Distractibility/Hyperactivity Adaptability Reinforces Parent Demandingness Mood Acceptability Competence Isolation Attachment Health Role Restriction Depression Spouse/Parenting Partner Relationship Life Stress	Not applicable	Not applicable	Not applicable	Not applicable	Link
Urogenital Distress Inventory - Short Form (UDI-6)	PRO	Full	Adult	Irritative Symptoms (2 items) Obstructive/ Discomfort symptoms (2 items) Stress Symptoms (2 items)	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Social Responsiveness Scale (SRS)	PRO	Full	Adolescent	Recognition of social cues (9 items) Interpretation of social cues (9 items) Responses to social cues (8 items) Tendency to engage socially (9 items) Language deficits (6 items) Restricted, repetitive and stereotyped patterns of behavior, interest and activities Miscellaneous symptoms (4 items)	Not a Rare Disease	Not a Rare Disease	Rare pervasive developmental disorder Rare intellectual disability	Not applicable	Link
Behavior and Symptom Identification Scale® (BASIS-32®)	PRO	Full	Adolescent Adult	Relation to Self Others (7) Daily living / Role functioning (6 items + working, school, household responsabilities) Depression / Anxiety (6 items) Impulsive / Addictive (6 items) Psychosis (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Bowel Control Scale (BWCS)	PRO	Full	Adult	Bowel control	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
International Consultation on Incontinence Questionnaire Anal Incontinence Symptoms and Quality of Life Module (ICIQ-B)	PRO	Full	Adult	Bowel pattern Bowel control Quality of life	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Illness Perception Questionnaire (IPQ)	PRO	Full	Adolescent Adult	Identity scale (12 core symptoms) Time-line (3 items) Consequences (7 items) Cure control (6 items) Cause (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Revised Illness Perception Questionnaire (IPQ-R)	PRO	Full	Adolescent Adult	Identity (14 items) Timeline (acute/chronic) (6 items) Timeline (cyclical) (4 items) Consequences (6 items) Personal control (6 items) Treatment control (5 items) Emotional representations (6 items) Illness coherence (5 items) Causes: Psychological attributions (6 items) Risk factors (7 items) Immunity (3 items) Accident or chance (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Psychological General Well-Being Index (PGWBI)	PRO	Full	Adult	Anxiety (5 items) Depressed mood (3 items) Positive well being (4 items) Self control (3 items) General health (3 items) Vitality (4 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Psychosocial Impact of Assistive Device Scale (PIADS)	PRO	Full	Adult	Willingness to take chances Ability to participate Eagerness to try new things Ability to adapt to ADL Ability to take advantage of opportunities Well being Competence Adequacy Efficiency Productivity Usefulness Expertise Capability Performance Skillfulness Independence Quality of Life Confusion Self-esteem Security Sense of power Embarrassment Happiness Sense of control Frustration Self-confidence	Not applicable	Not applicable	Not applicable	Not applicable	Link
Low Luminance Questionnaire (LLQ)	PRO	Full	Adult Aged	Driving (5 items) Extreme lighting (8 items) Mobility (6 items) Emotional distress (4 items) General dim lighting (6 items) Peripheral vision (3 items)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
Sexual Function Index (SFI)	PRO	Basic	Adult	Ejaculation (2 items) Erectile Function (3 items) Overall satisfaction (1 item) Problem assessment (3 items) Sexual drive (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Health Assessment Questionnaire for the Spondyloarthropaties (HAQ-S)	PRO	Full	Adult	Disability Index section (20 items) Use of aids and devices (3 items) Activities (1 item) Pain scale (1 item) Global Health Status (1 item) Activity (3 items) Driving (2 items) Stiffness scale (1 item)	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA	Link
Jenkins Activity Survey (JAS)	PRO	Full	Adult	Speed and Impatience scale (Factor S) (21 items) Job Involvement scale (24 items) Hard-Driving and Competitive scale (20 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Index of Sexual Life (ISL)	PRO	Full	Adult	Sexual life satisfaction (6 items) Sexual drive (2 items) General life satisfaction (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Medical Outcomes Study (MOS) Social Support Survey (MOS-SSS)	PRO	Full	Adult	Emotional / informational support (8 items) Tangible support (4 items) Positive interaction (3 items) Affection (3 items) Additional item (1 item)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Life Functioning Questionnaire (LFQ)	PRO	Full	Adult	Part I: Role function (14 items) Leisure time with friends (3 items) Leisure time with family (3 items) Duties at home (4 items) Duties at work (4 items) Part II: Work role (7 items) (Not scored)	Not a Rare Disease	Not a Rare Disease	Rare neurologic disease with psychiatric involvement	ERN-RND	Link
Pictured Child's Quality of Life Self Questionnaire (AUQUEI)	PRO	Full	Pediatric	Leisure (6 items) Family environment (6 items) Duties (3 or 7 items) External world/autonomy (6 items) Separation (6 items) Parents (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Quality of Life Radiation Therapy Instrument (QOL-RTI)	PRO	Full	Adult	Functional / Health (9 items) Socioeconomic / Family (6 items) Emotional / Psychological (7 items) General / Overall Quality of life (2 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Family System Test (FAST)	PRO and ClinRO	Full	Pediatric Adolescent Adult	Family cohesion and hierarchy Family flexibility Generational boundaries	Not applicable	Not applicable	Not applicable	Not applicable	Link
Tableau d'Evaluation Assistée de la Qualité de Vie (TEAQV)	PRO and ClinRO	Full	Adult	Physical well-being Psychological well-being Family relationships Professional activity	Not applicable	Not applicable	Not applicable	Not applicable	Link
Pediatric Quality of Life Inventory? Family Impact Module (PedsQL? Family Impact Module)	PRO and ObsRO	Full	Caregiver	Physical Functioning (6 items) Emotional Functioning (5 items) Social Functioning (4 items) Cognitive Functioning (5 items) Communication (3 items) Worry (5 items) Daily Activities (3 items) Family Relationships (5 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Self-Esteem and Relationship Questionnaire (SEAR©)	PRO	Full	Adult	Sexual Relationship Satisfaction (8 items) Confidence-Self-Esteem (4 items) Confidence-Overall Relationship Satisfaction (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Functional Outcomes of Sleep Questionnaire Short Version (FOSQ-10)	PRO	Full	Adult	General Productivity (2 items) Activity level (6 items) Vigilance (1 item) Intimacy and Sexual Relationships (1 item)	Not a Rare Disease	Not a Rare Disease	Rare sleep disorder	Not applicable	Link
Duke Activity Status Index (DASI)	PRO	Full	Adult	Personal care (1 item) Ambulation (4 item) Household tasks (4 items) Sexual function (1 item) Recreation (2 items)	Not a Rare Disease	Not a Rare Disease	Rare cardiac disease	ERN GUARD-HEART	Link
Health Related Productivity Questionnaire (HRPQ)	PRO	Full	Adolescent Adult	Current employment status (1 item) Employment related productivity (3 items) Household chores related productivity (3 items) Disease-related productivity (2 items) Schoolwork-related productivity (3 items) (Optional section) Work outside home (3 items) Housework (3 items) Classes/homework (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Physical Activity Scale for the Elderly (PASE)	PRO	Full	Adult Aged	Occupational household leisure time activities	Not applicable	Not applicable	Not applicable	Not applicable	Link
Mayers' Lifestyle Questionnaires (1), (2) and (3) (Mayers' LSQ (1), (2) and (3))	PRO	Full	Adolescent Adult Aged	Looking after yourself (26 or 15 items) Getting around: your own home (4 items) Getting around: further afield (5 items) Looking after others (2 items) Being with others (6 or 8 items) Your beliefs and values (3 items) Being in or out of work / attending college (5 or 6 items) Activities you enjoy doing (5 items) Finances (4 items) Choices (5 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Weekly Record of Behavior - short form (WRB-S)	PRO and ObsRO	Full	Caregivers Aged	Resistance to help with activities of daily living (5 behaviors) Restless behaviors (2 behaviors) Depressive behaviors (3 behaviors) Disruptive behaviors (4 behaviors) Memory-related behaviors (3 behaviors) Reality problems (2 behaviors)	Not a Rare Disease	Not a Rare Disease	Rare dementia	ERN-RND	Link
Health and Labour Questionnaire (HLQ)	PRO	Basic	Adult	Absence from work (3 items) Reduced productivity at paid work (9 items) Unpaid labour production (3 items) Impediments to paid and unpaid labour (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Endicott Work Productivity Scale (EWPS)	PRO	Full	Adult	work functioning	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
iMTA Productivity Cost Questionnaire (iPCQ)	PRO	Full	Adult	Absenteeism (3 items) Presenteeism (3 items) Productivity losses of unpaid work (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Impact of Cancer Version 2 (IOC v2)	PRO	Full	Adolescent Adult	Positive impact summary scale (17 items) Altruism and empathy (4 items) Health awareness (4 items) Meaning of cancer (5 items) Positive self-evaluation (4 items) Negative impact summary scale (20 items) Appearance concerns (3 items) Body change concerns (3 items) Life interferences (7 items) Worry (7 items) Employment concerns (3 items) Relationships concerns (not partnered) (3 items) Relationships concerns (partnered) (4 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
Quality of Life with Eye Disease (CMV-EYE)	PRO	Full	Adult	Visual functions (7 items) Visual symptoms (5 items) Vision rating (2 items) Impact of treatment administration (4 items) Time spent receiving treatment every day	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	ORPHA:137698	Rare ophthalmic disorder	ERN EYE	Link
NIH Toolbox Sensation Battery (NIH Toolbox Sensation Battery)	PRO and PerfO	Basic	Adolescent Adult	Audition (1 task) Vision (1 task) Vestibular (1 task) Olfaction (1 task) Pain (7 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Nottingham Extended Activities of Daily Living (NEADL)	PRO	Full	Adult	Mobility (6 items) In the kitchen (5 items) Domestic tasks (5 items) Leisure activities (6 items)	Not a Rare Disease	Not a Rare Disease	Rare central nervous system and retinal vascular disease	VASCERN ERN-RND	Link
Near Activity Visual Questionnaire (NAVQ)	PRO	Full	Adult	Difficulty to perform tasks involving near vision (10 items) overall satisfaction with near visual ability (1 item)	Not a Rare Disease	Not a Rare Disease	Rare ophthalmic disorder	ERN EYE	Link
16-dimensional health-related quality of life measure (16D© )	PRO or ObsRO	Full	Adolescent	mobility vision hearing breathing sleeping eating speech elimination usual activities [school and hobbies] friends physical appearance mental function discomfort and symptoms depression distress and vitality	Not applicable	Not applicable	Not applicable	Not applicable	Link
Acceptance and Action Questionnaire-Stigma (AAQ-S)	PRO	Full	Adult	Psychological inflexibility (11 items) Psychological flexibility (10 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Ambivalence over Emotional Expression Questionnaire (AEQ)	PRO	Full	Adult	Ambivalence over Emotional Expression (28 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Adolescent Life Change Events Scale (ALCES)	PRO	Full	Adolescent	A parent died Brother or sister died Close friend died Parents divorced or separated Failed one or more subjects in school You were arrested by the police Flunked a grade in school Family member had trouble with alcohol Taking drugs or drinking alcohol Losing a favorite pet Parent or relative got very sick Losing a job Breaking up with a girl / boy friend Quitting school A close friend getting pregnant Parent losing a job Getting very sick or badly hurt Hassling with parents Trouble with teacher or principal Having problems with acne, weight, height Attending a new school Moving to a new home Change in physical appearance (braces, eyeglasses) 47 Hassling with a brother or sister Starting your menstrual period Having someone new move in with your family (grandparent, adopted brother or sister or other) Starting a job Mother getting pregnant Starting to date Making new friends Brother or sister getting married	Not applicable	Not applicable	Not applicable	Not applicable	Link
Attention Star (Attention Star)	PRO and ClinRO	Basic	Pediatric Adolescent	School and learning Your routine Family Friends Being healthy How you feel How you behave Attention and organisation	Not applicable	Not applicable	Not applicable	Not applicable	Link
Brief Fatigue Inventory (BFI)	PRO	Full	Adult	Fatigue (9 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Big Five 10 (BFI-10)	PRO	Basic	Adult	Extraversion (2 items) Agreeableness (2 items) Conscientiousness (2 items) Neuroticism (2 items) Openness (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Bond-Lader VAS (Mood Rating Scale) (BL-VAS)	PRO	Full	Adult	Alertness (9 items) Contentment (5 items) Anxiety (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Block Adult Physical Activity Screener - Year (Block PA_Adult04)	PRO	Basic	Adult	No information	Not applicable	Not applicable	Not applicable	Not applicable	Link
Block Kids 2-17 Screener (Block_K_Screen)	PRO	Basic	Adult	No information	Not applicable	Not applicable	Not applicable	Not applicable	Link
Block Kids Physical Activity Screener - Last Week (8-17)(Block_PA_KID04)	PRO	Basic	Adult	No information	Not applicable	Not applicable	Not applicable	Not applicable	Link
Behavior Rating Inventory of Executive Function®, Second Edition (BRIEF®2)	PRO or ObsRO	Full	Pediatric Adolescent	Inhibit Self-Monitor Shift Emotional Control Working Memory Plan/Organize	Not applicable	Not applicable	Not applicable	Not applicable	Link
Conners Comprehensive Behavior Rating Scales Self-Report Form (Conners CBRS Self-Report Form)	PRO	Full	Adolescent	Conners CBRS Content Scales DSM-5 Symptom Scales Other Clinical Indicators Conners Clinical Index Critical Items Validity Scales Impairment Items Additional Questions	Not a Rare Disease	Not a Rare Disease	Rare developmental defect during embryogenesis	ERN ITHACA	Link
Child Occupational Self Assessment (COSA)	PRO	Basic	Pediatric	Activity (Competence scale) how activities are important (Values scale)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Central Relationship Questionnaire (CRQ)	PRO	Basic	Adult	Wish response from others response of self	Not applicable	Not applicable	Not applicable	Not applicable	Link
Daily Hunger Questionnaire (DHQ)	PRO	Full	Adolescent Adult	Hunger (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Eysenck Personality Questionnaire (EPQ)	PRO	Basic	Adult	Extraversion- Introversion Neuroticism- Emotional Stability Psychoticism/Socialisation	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Eysenck Personality Questionnaire Revised (EPQ-R)	PRO	Basic	Adult	Extraversion- Introversion Neuroticism- Emotional Stability Psychoticism/Socialisation	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Eysenck Personality Questionnaire Revised Short Form (EPQR-S)	PRO	Basic	Adult	Extraversion- Introversion Neuroticism- Emotional Stability Psychoticism/Socialisation	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Epworth Sleepiness Scale - Child Adolescent (ESS-CHAD)	PRO or ObsRO	Full	Pediatric Adolescent	Daytime sleepiness	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Groningen Activity Restriction Scale (GARS)	PRO	Full	Adult	Activities of the daily living Instrumental activities of the daily living	Not applicable	Not applicable	Not applicable	Not applicable	Link
World Health Organization Health and Work Performance Questionnaire (HPQ)	PRO	Basic	Adult	Health and Work Performance	Not applicable	Not applicable	Not applicable	Not applicable	Link
Inventory of Interpersonal Problems - 64 items (IIP - 64 items)	PRO	Basic	Adult	domineering/controlling vindictive/self-centered cold/distant socially inhibited non-assertive overly accommodating self-sacrificing and intrusive/needy	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Inventory of Interpersonal Problems (IIP)	PRO	Basic	Adult	domineering/controlling vindictive/self-centered cold/distant socially inhibited non-assertive overly accommodating self-sacrificing intrusive/needy	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Improved Health Assessment Questionnaire (Improved HAQ)	PRO	Full	Adult	Physial functioning	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Junior Temperament and Character Inventory (JTCI)	PRO	Full	Adolescent	Novelty Seeking (18 items) Harm Avoidance (22 items) Reward Dependence (9 items) Persistence (6 items) Self-directedness (20 items) Cooperativeness (20 items) Self-transcendence (10 items): Fantasy (5 items) Spirituality (5 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Karolinska Sleepiness Scale (KSS)	PRO	Full	Adult	Level of subjective sleepiness (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Lower Limb Functional Index (LLFI)	PRO	Full	Adult	Functioning (25 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Lower Limb Functional Index-10 (LLFI-10)	PRO	Full	Adult	Functioning (10 items) Patient Specific Index (1 item) Pre-injury duties (1 item) Overall status (1 item)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
MD Anderson Symptom Inventory (MDASI)	PRO	Full	Adult	Symptom severity (13 items) Symptom interference (6 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Milford Epworth Sleepiness Scale (MESS)	PRO	Full	Adult	Sleep	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
modified Vision-Related Quality of Life Core Measure (mVCM1)	PRO	Full	Aged	Vision-Related Quality of Life (9 items)	Not applicable	Not applicable	Rare ophthalmic disorder	ERN EYE	Link
Neuro-QoL Scale v1.1 - Pediatric Lower Extremity	PRO	Full	Adolescent	Lower extremity function (20 items)	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE	Link
Neuro-QoL Scale v1.1 - Pediatric Upper Extremity - Fine Motor, ADL	PRO	Full	Adolescent	Upper extremity function (20 items)	Not a Rare Disease	Not a Rare Disease	Rare epilepsy	ERN EpiCARE	Link
NIH Toolbox - Emotion - Social Relationships - Social Distress	PRO or ObsRO	Basic	Pediatric Adolescent Adult Aged	Emotion Social Relationships Social Distress	Not applicable	Not applicable	Not applicable	Not applicable	Link
NIH Toolbox - Emotion - Social Relationships - Social Support	PRO	Basic	Pediatric Adolescent Adult Aged	Emotion Social Relationships Social Support	Not applicable	Not applicable	Not applicable	Not applicable	Link
NIH Toolbox - Friendship FF Age 18+ v2.0	PRO	Basic	Adult Aged	Friendship	Not applicable	Not applicable	Not applicable	Not applicable	Link
NIH Toolbox - Loneliness FF Ages 8-17 v2.0	PRO	Basic	Pediatric Adolescent	Loneliness	Not applicable	Not applicable	Not applicable	Not applicable	Link
NIH Toolbox - NIH Toolbox - Emotion - Social Relationships - Companionship	PRO or ObsRO	Basic	Pediatric Adolescent Adult Aged	Emotion Social Relationships Companionship	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS - Pediatric Global Health Child-Report Form (PGH-7 Child-Report Form)	PRO	Full	Pediatric Adolescent	General health: physical, mental, and social health (9 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Bank - Strength Impact	PRO	Full	Pediatric Adolescent	Physical capacity to perform functional activities of daily living (4 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Bank - Upper Extremity	PRO	Full	Pediatric Adolescent	Upper Extremity function (34 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Bank v1.0 - Physical Activity	PRO	Full	Pediatric Adolescent	Physical activity (10 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Bank v2.0 - Mobility	PRO	Full	Pediatric Adolescent	Physical mobility (24 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v1.0 - Physical Activity 4a	PRO	Full	Pediatric Adolescent	Physical activity (4 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v1.0 - Physical Activity 8a	PRO	Full	Pediatric Adolescent	Physical activity (8 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v1.0 - Strength Impact 4a	PRO	Full	Pediatric Adolescent	Physical capacity to perform functional activities of daily living (4 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v1.0 - Strength Impact 8a	PRO	Full	Pediatric Adolescent	Physical capacity to perform functional activities of daily living (8 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v2.0 – Mobility 8a	PRO	Full	Pediatric Adolescent	Physical mobility (8 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
PROMIS Pediatric Short Form v2.0 – Upper Extremity 8a	PRO	Basic	Pediatric Adolescent	Upper Extremity function (8 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Patient-Specific Functional Scale (PSFS)	PRO	Basic	Adult	Functioning (5 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Quality of Life Questionnaire™ (QLQ™)	PRO	Full	Adult	Physical Well-Being (12 items) Material Well-Being (12 items) Personal Growth (12 items) Marital Relations (12 items) Parent-Child Relations (12 items) Extended Family Relations (12 items) Extramarital Relations (12 items) Altruistic Behavior (12 items) Political Behavior (12 items) Job characteristics (12 items) Occupational Relations (12 items) Job Satisfiers (12 items) Creative / Aesthetic Behavior (12 items) Sports Activity (12 items) Vacation Behavior (12 items) Social Desirability (12 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Quantity and Quality Method (QQ Method )	PRO	Full	Adult	Work functioning (2 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Split Week Self-Assessment of Sleep Survey (SASS-Y)	PRO	Basic	Adult	Sleep (18 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Social Problems Questionnaire (SPQ)	PRO	Basic	Adult	Mobility (3 or 4 items) Joint stiffness (1 item) Family support (2 or 1 items) Worries about others (2 items) Worries about future (5 or 3 items) Maintaining purpose (2 items) Burden of illness (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Stanford Sleepiness Scale (SSS)	PRO	Full	Adult	Perceived level of sleepiness (1 item)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Time of Day Sleepiness Scale (ToDSS)	PRO	Basic	Adult	Sleepiness across the day (8 items)	Not a Rare Disease	Not a Rare Disease	Rare sleep disorder	Not applicable	Link
Upper Limb Functional Index (ULFI)	PRO	Full	Adult	Quality of life and upper extremity dysfunction (10 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Upper Limb Functional Index-10 (ULFI-10)	PRO	Full	Adult	Quality of life and upper extremity dysfunction (25 items)	Not a Rare Disease	Not a Rare Disease	Rare neuromuscular disease	ERN EURO-NMD	Link
Wechsler Memory Scale - Fourth Edition (WMS-IV)	PRO	Basic	Adolescent Adult Aged	Logical Memory Verbal Paired Associates Visual Reproduction Spatial Addition Symbol Span Design Memory General Cognitive	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Work Role Functioning Questionnaire 2.0 (WRFQ 2.0)	PRO	Basic	Adult	Scheduling and output demands (10 items) physical demands (5 items) mental and social demands (7 items) flexibility demands (5 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Work Role Functioning Questionnaire-10 2.0 (WRFQ-10 2.0 )	PRO	Basic	Adult	Work functioning (5 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Work Role Functioning Questionnaire-5 2.0 (WRFQ-5 2.0 )	PRO	Basic	Adult	Work functioning (10 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Caregiver Quality of Life Index-Cancer (CQOLC)	PRO	Full	Caregiver	Burden (10 items) Distruptiveness (7 items) Positive adaptation (7 items) Financial concerns (3 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
Kidney Disease Quality of Life instrument (KDQOL™)	PRO	Full	Adult	Symptoms / Problems Effects of kidney disease on daily life Burden of kidney disease Cognitive function Work status Sexual function Quality of social interaction Sleep Social support Dialysis staff encouragement Patient satisfaction	Not a Rare Disease	Not a Rare Disease	Rare renal disease	ERN ERKNet	Link
Screen for Caregiver Burden (SCB)	PRO	Full	Caregiver	Subjective and Objective burden (25 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Modified Caregiver Appraisal Scale (MCAS)	PRO	Full	Caregiver	Perceived burden (15 items) Caregiving relationship satisfaction (11 items) Caregiving ideology (5 items) Caregiving mastery (4 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Marwit Meuser Caregiver Grief Inventory (MM-CGI)	PRO	Full	Caregiver	Personal Sacrifice Burden (18 items) Heartfelt Sadness & Longing (15 items) Worry and Felt Isolation (17 items)	Not a Rare Disease	Not a Rare Disease	Rare neurodegenerative disease	ERN-RND	Link
Zarit Burden Interview (ZBI)	PRO	Full	Caregiver	Burden in the relationship (6 items) Emotional well-being (7 items) Social and family life (4 items) Finances (1 item) Loss of control over one's life (4 items) Personal strain (11 items) Role strain (6 items) 3-factor solution (Knight, 2000) Embarrassment/anger (9 items) Self-criticism (2 items) Patient dependency (3 items)	Not a Rare Disease	Not a Rare Disease	Rare dementia	ERN-RND	Link
Caregiver Appraisal Scale (CAS)	PRO	Full	Caregiver	Caregiving burden (9 items) Caregiving satisfaction (6 items) Caregiving mastery (4 items) Caregiving demand (3 items) Caregiving impact (3 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
Burden of Treatment Questionnaire (TBQ)	PRO	Full	Adult Aged	Burden of treatment (15 items)	Not applicable	Not applicable	Not applicable	Not applicable	Link
EORTC Quality of Life Questionnaire - Elderly Cancer Patients Module (EORTC QLQ-ELD14)	PRO	Full	Aged	Mobility (3 or 4 items) Joint stiffness (1 item) Family support (2 or 1 items) Worries about others (2 items) Worries about future (5 or 3 items) Maintaining purpose (2 items) Burden of illness (2 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
CareGiver Oncology Quality of Life questionnaire (CarGOQoL)	PRO	Full	Caregiver	Psychological well-being (4 items) Burden (4 items) Relationship with health care (3 items) Administration and Finances (3 items) Coping (3 items) Physical well-beeing (4 items) Self-esteem (2 items) Leisure (2 items) Social support (2 items) Private Life (2 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN ERN PaedCan	Link
Schizophrenia CareGiver Quality of Life Questionnaire (S-CGQoL)	PRO	Full	Caregiver	Psychological and Physical Well-Being (5 items) Psychological Burden and Daily Life (7 items) Relationships with Spouse (3 items) Relationships with Psychiatric Team (3 items) Relationships with Family (2 items) Relationships with Friends (2 items) Material Burden (3 items)	Not a Rare Disease	Not a Rare Disease	Rare neurologic disease with psychiatric involvement	ERN-RND	Link
Swallowing Quality of Life questionnaire (SWAL-QOL)	PRO	Full	Adult	Burden (2 items) Eating duration (2 items) Eating desire (3 items) Symptom Frequency (14 items) Food selection (2 items) Communication (2 items) Fear (4 items) Mental health (5 items) Social functioning (5 items) Fatigue (3 items) Sleep (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Treatment Related Impact Measure - Weight (TRIM-W)	PRO	Full	Adult	Daily life (6 items) Weight management (3 items) Treatment burden (4 items) Experience of side effects (5 items) Psychological health (4 items)	Not a Rare Disease	Not a Rare Disease	Genetic obesity	ERN Endo	Link
Kidney Disease Quality of Life instrument - Short form™ (KDQOL-SF™)	PRO	Full	Adult	Symptoms / Problems Effects of kidney disease on daily life Burden of kidney disease Cognitive function Work status Sexual function Quality of social interaction Sleep Social support Dialysis staff encouragement Patient satisfaction Physical functioning Role-Physical Pain General health perceptions Emotional well-being Role- emotional Social function Energy/Fatigue Overall health rating	Not a Rare Disease	Not a Rare Disease	Rare renal disease	ERN ERKNet	Link
Kidney Disease Quality of Life instrument™ - 36 items (KDQOL-36™ Survey)	PRO	Full	Adult	Symptoms/problems (12 items) Burden of kidney disease (4 items) Effects of kidney disease (8 items) SF-12 (12 items) Physical functioning (2 items) Role-Physical (2 items) Pain (1 item) General Health (1 item) Emotional Well-being (2 items) Role-emotional (2 items) Social functioning (1 item) Energy/Fatigue (1 item)	Not a Rare Disease	Not a Rare Disease	Rare renal disease	ERN ERKNet	Link
International Consultation on Incontinence Questionnaire Absorbent Pads (ICIQ-PadPROM)	PRO	Full	Adult	Pad design and physical effects Psychological effects Social effects and leakage Burden of the pad use	Not a Rare Disease	Not a Rare Disease	Rare urogenital disease	ERN eUROGEN	Link
Quality of Life Questionnaire - Bronchiectasis v3.1 (QOL-B v3.1)	PRO	Full	Adult	Respiratory symptoms (9 items) Physical functioning (5 items) Vitality (3 items) Role functioning (5 items) Health perceptions (4 items) Emotional functioning (4 items) Social functioning (4 items) Treatment Burden (3 items)	Not a Rare Disease	Not a Rare Disease	Rare respiratory disease	ERN LUNG	Link
Caregiver Burden Inventory (CBI)	PRO	Full	Caregiver	Time-Dependence Burden (5 items) Developmental Burden (5 items) Physical Burden (4 items) Social Burden (5 items) Emotional Burden (5 items)	Not applicable -> Anorectal malformation	Not applicable	Not applicable	Not applicable	Link
EORTC Quality of life Questionnaire - Pancreatic Cancer Module (EORTC QLQ-PAN26)	PRO	Full	Adult	Pancreatic pain (4 items) Digestive (2 items) Altered bowel habit (2 items) Hepatic (2 items) Body image (2 items) Health care satisfaction (2 items) Sexuality (2 items) swollen abdomen (1 item) taste changes (1 item) indigestion (1 item) flatulence (1 item) weight loss (1 item) loss of muscle strength (1 item) dry mouth (1 item) burden of treatment (1 item) fear of future health (1 item) ability to plan future	Not a Rare Disease	Not a Rare Disease	Rare pancreatic tumor	ERN EURACAN	Link
Patient-Reported Outcomes Measurement Information System® - Plus-Heart Failure (PROMIS® - Plus-HF)	PRO	Full	Adult	Dyspnea (10 items) Fatigue (11 items) Health Behavior Outcomes (3 items) Pain Interference (2 items) Physical Function (10 items) Sleep Disturbance (6 items) Symptoms (3 items) Anger (1 item) Anxiety (5 items) Cognitive abilities (3 items) Cognitive function (3 items) Depression (6 items) Illness Burden (4 items) Life satisfaction (2 items) Ability to participate in social roles and activities (6 items) Independence (3 items) Satisfaction with social roles and activities (6 items) Social isolation (2 items)	Not a Rare Disease	Not a Rare Disease	Rare cardiac disease	ERN GUARD-HEART	Link
Satisfaction of PAtients with Crohn's diseasE (SPACE-Q)	PRO	Full	Adult	Disease control (8 items) Symptoms transition scale (7 items) Anal symptoms transition scale (2 items) Quality of life transition scale (8 items) Tolerability (3 items) Convenience (11 items) Expectation confirmation toward efficacy (1 item) Expectation confirmation toward side effects (1 item) Expectation confirmation toward convenience (1 item) Satisfaction with treatment (10 items) Motivation (4 items) Type of treatment administration (1 item) Patient expectations about future new treatments (1 item)	Not a Rare Disease	Not a Rare Disease	Rare inflammatory bowel disease	ERNICA	Link
Asthma Symptom Utility Index (ASUI)	PRO	Full	Adult	Cough wheeze shortness of breath awakening at night	Not a Rare Disease	Not a Rare Disease	Rare respiratory disease	ERN LUNG	Link
Functional Assessment of Cancer Therapy - General (FACT-G)	PRO	Full	Adult	Physical Well-being (7 items) Social / Family Well-being (7 items) Emotional Well-being (6 items) Functional Well-being (7 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Health and Activity Limitation Index (HALex)	PRO	Full	Adult	Perceived Health Activity Limitation	Not applicable	Not applicable	Not applicable	Not applicable	Link
McMaster Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR)	PRO	Full	Adult	Physical functioning Social functioning  Emotional functioning	Not a Rare Disease	Not a Rare Disease	Rare systemic or rheumatologic disease	ERN RITA	Link
Quality of Well-Being scale Self-Administered (QWB-SA)	PRO	Full	Adult	Presence/absence of chronic symptoms/problems (19 items) Physical symptoms (25 items) Mental health symptoms and behaviors (14 items) MobilityPhysical activitySocial activity / self care	Not applicable	Not applicable	Not applicable	Not applicable	Link
Brief Sexual Function Questionnaire (BSFQ)	PRO	Full	Adult	Sexual activity/Performance (10 items) Interest (2 items) Satisfaction (3 items) Physiological competence (3 items) Satisfaction with frequency of sexual activity (1 item) Sexual preferences (2 items)	Not a Rare Disease	Not a Rare Disease	Not applicable	Not applicable	Link
Cancer Therapy Satisfaction Questionnaire (CTSQ)	PRO	Full	Adult	Expectations of Therapy (5 items) Feelings about Side Effects (4 items) Satisfaction with Therapy (7 items)	Not a Rare Disease	Not a Rare Disease	Rare tumor	ERN EURACAN	Link
Family Environment Scale (FES)	PRO	Full	Pediatric Caregiver	Cohesion Expressiveness Conflict Independence Achievement orientation Intellectual-cultural orientation Active-recreational orientation Moral-religious emphasis Organization Control	Not applicable	Not applicable	Not applicable	Not applicable	Link
Child Health Utility (CHU9D)	PRO	Full	Pediatric	Worried (1 item) Sad (1 item) Annoyed (1 item) Pain (1 item) School work (1 item) Daily routine (1 item) Tired (1 item)