Arylsulfatase A deficiency

Preferred Label : Arylsulfatase A deficiency;

ICD-11 synonym : Cerebroside sulfatase deficiency;

Origin ID

465423711;

UMLS CUI

C2713319;

Currated CISMeF NLP mapping
- Arylsulfatase A deficiency (disorder) [SNOMED CT concept]
- arylsulfatase A deficiency [MeSH concept]
See also inter- (CISMeF)
- Deficiency of cerebroside-sulfatase (disorder) [SNOMED CT concept]
- deficiency of cerebroside-sulfatase [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arylsulfatase A deficiency (disorder) [SNOMED CT concept]
- Deficiency of cerebroside-sulfatase (disorder) [SNOMED CT concept]
- arylsulfatase A deficiency [MeSH concept]
- deficiency of cerebroside-sulfatase [SNOMED Notion]
Validated automatic mappings to NTBT
- Deficiency of arylsulfatase (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [OMIM Phenotype]
- leukodystrophy, metachromatic [MeSH Descriptor]
- metachromatic leukodystrophy [DO Concept]