Niemann-Pick Disease, Type B

Preferred Label : Niemann-Pick Disease, Type B;

NCIt synonyms : Type B Niemann-Pick Disease;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form.;

Details

Origin ID

C126866;

UMLS CUI

C0268243;

Automatic exact mappings (from CISMeF team)
- Chronic neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B [MeSH Descriptor]
- Niemann-Pick disease, type B [MeSH concept]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- Niemann-pick disease, type b [OMIM Phenotype]
- niemann-pick disease, type b [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B [MeSH Descriptor]
- Niemann-Pick disease, type B [MeSH concept]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- Niemann-pick disease, type b [OMIM Phenotype]
- niemann-pick disease, type b [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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