niemann-pick disease, type c - CISMeF

CISMeF

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Niemann-pick disease, type cSNOMED Notion

Preferred Label : niemann-pick disease, type c;

Details

Origin ID

D6-74030;

UMLS CUI

C0220756;

Automatic exact mappings (from CISMeF team)
- Niemann-Pick disease, type A [MeSH Descriptor]
Currated CISMeF NLP mapping
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ICD-11 More detail]
- Niemann-Pick disease type C [ORDO Disease]
- 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]
False automatic mappings
- Niemann-Pick disease, type B [MeSH Descriptor]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Niemann-Pick disease type C, adult neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, juvenile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, late infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe early infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe perinatal form [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Lipid storage disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Supranuclear eye movement disorder [ORDO Disease]
- Tauopathy with a major tau triplet at 60, 64 and 69 kDa [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- sphingomyelin phosphodiesterase [SNOMED Notion]
SNOMED CT concept
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Niemann Pick disease type D [Disease (Nov.)]
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 [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]
Validated automatic mappings to BTNT
- Niemann-pick disease, type c1 [OMIM Phenotype]

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01/05/2025

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