Niemann-Pick Disease, Type C

Preferred Label : Niemann-Pick Disease, Type C;

NCIt synonyms : Type C Niemann-Pick Disease;

NCIt definition : An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure.;

Details

Origin ID

C85214;

UMLS CUI

C0220756;

Currated CISMeF NLP mapping
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick disease type C [ICD-11 More detail]
- 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]
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 [ORDO Disease]
- Niemann-Pick disease type C [ICD-11 More detail]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C [MeSH Descriptor]
- Niemann-Pick disease, type C [MeSH 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]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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