sphingolipidoses

Preferred Label : sphingolipidoses;

MeSH definition : A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.;

MeSH synonym : sphingolipid storage diseases; sphingolipid storage disease; storage disease, sphingolipid; storage diseases, sphingolipid; sphingolipidosis;

MeSH annotation : general or unspecified; prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Sphingolipidoses;

Details

Origin ID

D013106;

UMLS CUI

C0037899;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- 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]
- sphingolipidoses [Error of metabolism category]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Sphingolipidosis [PASCAL descriptor]
- Sphingolipidosis [ICD-11 Subcategory]
- Sphingolipidosis [NCIt concept]
- Sphingolipidosis [ORDO Disease]
- Sphingolipidosis (disorder) [SNOMED CT concept]
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
- sphingolipidosis [DO Concept]
- sphingolipidosis [Disease (Nov.)]
- sphingolipidosis [Radlex concept]
DO Cross reference
- sphingolipidosis [DO Concept]
Manual BTNT mappings - CISMeF
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
ORDO relation(s)
- Sphingolipidosis [ORDO Disease]
Record concept(s)
- sphingolipidoses [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sphingolipidosis [ORDO Disease]
- Sphingolipidosis [PASCAL descriptor]
- Sphingolipidosis [NCIt concept]
- Sphingolipidosis [ICD-11 Subcategory]
- Sphingolipidosis (disorder) [SNOMED CT concept]
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
- sphingolipidosis [DO Concept]
- sphingolipidosis [Radlex concept]
- sphingolipidosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients