Salla disease
http://www.orpha.net/ORDO/Orphanet_309334
Term info
database cross reference
- MedDRA:10067531 (E (exact mapping (the terms and the concepts are equivalent)))
- UMLS:C1096903 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:E77.8 (Attributed)
- OMIM:604369 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:E77.8 (NTBT (narrower term maps to a broader term))
hasDbXref
OMIM:604369, MedDRA:10067531, UMLS:C1096903, ICD-10:E77.8
notation
ORPHA:309334
Term relations
Subclass of:
- clinical subtype
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- part_of some Free sialic acid storage disease
- has_inheritance some autosomal recessive
- has_age_of_onset some infancy
- present_in some Sweden and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.59