sphingolipid activator protein 1 deficiency - CISMeF

" /> sphingolipid activator protein 1 deficiency - CISMeF

CISMeF

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Sphingolipid activator protein 1 deficiencySNOMED Notion

Preferred Label : sphingolipid activator protein 1 deficiency;

Details

Origin ID

D6-74470;

UMLS CUI

C0268262;

Currated CISMeF NLP mapping
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- sphingolipid, nos [SNOMED Notion]
SNOMED CT concept
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT 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]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH concept]

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03/07/2025

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