Minimal data element | Coding |
---|---|
Approximate date of birth | mm/yyyy |
Sex at birth | Male, female, unknown |
Survival status | Alive, deceased, loss to follow-up, opted-out |
> date of death/loss to follow-up/opted-out | |
Name or country of specialized center | Specify center |
Confirmed diagnosis (checkboxes) | Yes > genetically + clinically, enzymatically + genetically, enzymatically + urinary sulfatides |
OMIM diagnosis | 250,100, 249,900, 272,200 |
Approximate date of diagnosis (age at diagnosis) | mm/yyyy if unknown: antenatal, at birth, childhood, adult |
Approximate date at symptom manifestation (age at symptom onset) | Pre-symptomatic, age in years and months |
Relevant other diagnosis/comorbidity | No, Yes > specify other (inherited) important conditions/prenatal history |
Inclusion of the patient in the registry is allowed | Yes consent was given, no but exceptional* circumstances apply |
Agreement to be contacted for research purposes | Yes, no, missing, not applicable |
Biological sample | Yes, no, unknown |
Link or information to a biobank | If applicable: free text |