Table 13 Rare disease data items. 117 in total. Item are extracted from the common data elements for rare diseases [14], and the Orphanet rare disease classifications [15]
From: Performance assessment of ontology matching systems for FAIR data
Data items 1-31 | Data items 32-62 | Data items 63-93 | Data items 94-117 |
|---|---|---|---|
Pseudonym | Consent to the reuse of data | Thoracic malformation | Rare Infectious Diseases |
Personal information | Biological sample | Rare Urogenital Diseases | Cholera |
Date of birth | Link to a biobank | Urogenital tract malformation | Rare Intoxications |
Date | Biobank | Rare Surgical Thoracic Diseases | Radiation myelitis |
Female | Disability | Thoracic outlet syndrome | Rare Gynaecological And Obstetric Diseases |
Male | Classification of functioning | Rare Skin Diseases | Vaginal carcinoma |
Foetus | Classification of disability | Ichthyosis | Rare Surgical Maxillo-facial Diseases |
Sex | Disability profile | Rare Renal Diseases | Cleft palate |
Patient status | Disability score | Multicystic dysplastic kidney | Rare Allergic Disease |
Alive | Rare diseases | Rare Eye Diseases | Acquired angioedema |
Dead | Rare Cardiac Diseases | Retinoblastoma | Rare Teratologic Disorders |
Lost in follow-up | Rare cardiomyopathy | Rare Endocrine Diseases | Infectious embryofetopathy |
Opted-out | Rare Developmental Anomalies During Embryogenesis | Neuroendocrine neoplasm | Chromosomal Anomalies Sorted By Chromosomes |
Opt-out | Hydrops fetalis | Rare Haematological Diseases | Polyploidy |
Date of death | Rare Cardiac Malformations | Mastocytosis | Rare Rheumatologic Diseases Of Childhood |
Care pathway | Congenital pericardium anomaly | Rare Immunological Diseases | Kawasaki disease |
First contact with specialised centre | Rare Sucking Swallowing Disorders | Graft versus host disease | Rare Disorders Potentially Indicated For Transplant |
Disease history | Stickler syndrome | Rare Systemic And Rhumatological Diseases | Systemic primary carnitine deficiency |
Age at onset | Rare Inborn Errors Of Metabolism | Hereditary angioedema | Prevalence |
Antenatal | MPI-CDG | Rare Odontological Diseases | Cases/families |
At birth | Rare Gastroenterological Diseases | Bruck syndrome | Case |
Age at diagnosis | Eosinophilic gastroenteritis | Rare Circulatory System Diseases | Worldwide |
Diagnosis | Rare Genetic Diseases | Congenital renal artery stenosis | Validated |
Diagnosis of the rare disease | Noonan syndrome | Rare Bone Diseases | Geographic |
Genetic diagnosis | Rare Neurological Diseases | Aneurysmal bone cyst | |
Undiagnosed case | Spinal cord injury | Rare Otorhinolaryngological Diseases | |
Phenotype | Rare Abdominal Surgical Diseases | Familial nasal acilia | |
Genotype | Adenoma of pancreas | Rare Infertility | |
Research | Rare Hepatic Diseases | Tuberculosis | |
Patient permission | Rare vascular liver disease | Rare Neoplastic Diseases | |
Agreement to be contacted for research purposes | Rare Respiratory Diseases | Germ cell tumor |