Lysosomal Storage Disease

Preferred Label : Lysosomal Storage Disease;

NCIt related terms : Lysosomal Storage Disorder; PHOSPHOLIPIDOSIS; Disorder of Lysosomal Enzymes;

NCIt definition : A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.;

Alternative definition : CDISC: Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND);

Details

Origin ID

C61250;

UMLS CUI

C0085078;

Automatic exact mappings (from CISMeF team)
- Lysosomal storage disease [PASCAL descriptor]
- Phospholipidosis [MedDRA Preferred Term]
- lysosomal storage disease [DO Concept]
Currated CISMeF NLP mapping
- Disorder of lysosomal enzyme (disorder) [SNOMED CT concept]
- Lysosomal disease [ORDO Disease]
- Lysosomal diseases [ICD-11 Category]
- Lysosomal storage disorders [LOINC component]
- Lysosomal storage disorders [MedDRA High Level Term]
- disorder of lysosomal enzyme, nos [SNOMED Notion]
- lysosomal storage disease [Radlex concept]
- lysosomal storage diseases [MeSH Descriptor]
- lysosomal storage diseases [MeSH concept]
- lysosome storage disorder [Disease (Nov.)]
DO Cross reference
- lysosomal storage disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of lysosomal enzyme (disorder) [SNOMED CT concept]
- Lysosomal disease [ORDO Disease]
- Lysosomal diseases [ICD-11 Category]
- Lysosomal storage disorder [MedDRA Preferred Term]
- Lysosomal storage disorders [LOINC component]
- Lysosomal storage disorders [MedDRA High Level Term]
- disorder of lysosomal enzyme, nos [SNOMED Notion]
- lysosomal storage disease [Radlex concept]
- lysosomal storage disease [DO Concept]
- lysosomal storage diseases [MeSH concept]
- lysosomal storage diseases [MeSH Descriptor]
- lysosome storage disorder [Disease (Nov.)]
concept_is_in_subset
- CDISC SEND Non-Neoplastic Finding Type Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium 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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