Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency

Preferred Label : Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency;

ICD-11 synonym : Metachromatic leukodystrophy due to saposin B deficiency; Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency;

Details

Origin ID

1051556131;

UMLS CUI

C0268262;

Currated CISMeF NLP mapping
- 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 (disorder) [SNOMED CT concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
- 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]
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
- sphingolipid activator protein 1 deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Metachromatic leukodystrophy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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