Niemann-Pick Disease

Preferred Label : Niemann-Pick Disease;

NCIt related terms : Sphingomyelin/Cholesterol Lipidosis;

NCIt definition : An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.;

Details

Origin ID

C61269;

UMLS CUI

C0028064;

Automatic exact mappings (from CISMeF team)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- genetic brain disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick diseases [MeSH concept]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick diseases [MeSH Descriptor]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
DO Cross reference
- Niemann-Pick disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick diseases [MeSH concept]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick diseases [MeSH Descriptor]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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