Niemann-Pick disease type C

Preferred Label : Niemann-Pick disease type C;

ICD-11 definition : Niemann-Pick disease type C (completely distinct from types A and B) is a complex lysosomal lipidosis resulting in hepatosplenomegaly and progressive neurological impairment.;

ICD-11 synonym : cholesterol transporter deficiency;

Détails

Origin ID

812702125;

UMLS CUI

C0220756;

Currated CISMeF NLP mapping
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease, type C [MeSH concept]
- Niemann-Pick disease, type C [MeSH Descriptor]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- niemann-pick disease, type c [SNOMED Notion]
See also inter- (CISMeF)
- Niemann Pick disease type D [Disease (Nov.)]
- Niemann-Pick disease type D [ORDO Disease]
- Niemann-Pick disease, type D (disorder) [SNOMED CT concept]
- niemann-pick disease, type d [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease, type C [MeSH Descriptor]
- Niemann-Pick disease, type C [MeSH concept]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- niemann-pick disease, type c [SNOMED Notion]
Validated automatic mappings to BTNT
- Niemann-pick disease, type c1 [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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