Sphingolipidosis

Preferred Label : Sphingolipidosis;

NCIt definition : An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.;

Details

Origin ID

C117254;

UMLS CUI

C0037899;

Automatic exact mappings (from CISMeF team)
- SPHINGOLIPIDOSIS [ACR pathology]
- SPHINGOLIPIDOSIS [ACR pathology]
- SPHINGOLIPIDOSIS [ACR pathology]
- SPHINGOLIPIDOSIS [ACR pathology]
- SPHINGOLIPIDOSIS [ACR pathology]
- SPHINGOLIPIDOSIS [ACR pathology]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Sphingolipidosis [PASCAL descriptor]
- Sphingolipidosis [ICD-11 Subcategory]
- Sphingolipidosis [ORDO Disease]
- Sphingolipidosis (disorder) [SNOMED CT concept]
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
- sphingolipidoses [MeSH concept]
- sphingolipidoses [MeSH Descriptor]
- sphingolipidosis [Radlex concept]
- sphingolipidosis [DO Concept]
- sphingolipidosis [Disease (Nov.)]
DO Cross reference
- sphingolipidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sphingolipidosis [ORDO Disease]
- Sphingolipidosis [PASCAL descriptor]
- Sphingolipidosis [ICD-11 Subcategory]
- Sphingolipidosis (disorder) [SNOMED CT concept]
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
- sphingolipidoses [MeSH Descriptor]
- sphingolipidoses [MeSH concept]
- sphingolipidosis [Radlex concept]
- sphingolipidosis [DO Concept]
- sphingolipidosis [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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