metachromatic leukodystrophy due to saposin B deficiency

Preferred Label : metachromatic leukodystrophy due to saposin B deficiency;

MeSH synonym : saposin B deficiency; metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency;

Details

Origin ID

C562609;

UMLS CUI

C0268262;

Automatic exact mappings (from CISMeF team)
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy due to saposin b deficiency [OMIM Phenotype]
- Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency [ICD-11 More detail]
MeSH term(s) associated for indexing
- leukodystrophy, metachromatic [MeSH Descriptor]
- saposins [MeSH Descriptor]
Record concept(s)
- metachromatic leukodystrophy due to saposin B deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy due to saposin b deficiency [OMIM Phenotype]
- Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency [ICD-11 More detail]
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
- sphingolipid activator protein 1 deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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