Niemann-Pick Disease, Type A

Preferred Label : Niemann-Pick Disease, Type A;

NCIt definition : An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease.;

Details

Origin ID

C126561;

UMLS CUI

C0268242;

Currated CISMeF NLP mapping
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- niemann-pick disease, type a [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- niemann-pick disease, type a [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SMPD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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