Peroxisomal Disorder

Preferred Label : Peroxisomal Disorder;

NCIt related terms : Disorder of Peroxisomal Function; Peroxisomal Function Disorder;

NCIt definition : A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.;

Details

Origin ID

C85005;

UMLS CUI

C0282528;

Automatic exact mappings (from CISMeF team)
- Peroxisomal disorders [PASCAL descriptor]
- Peroxisomal disorders [ICD-9 code]
Currated CISMeF NLP mapping
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
- Peroxisomal disease [ORDO Disease]
- Peroxisomal diseases [ICD-11 Category]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
- peroxisomal disorders [MeSH Descriptor]
- peroxisomal disorders [MeSH concept]
DO Cross reference
- peroxisomal disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
- Peroxisomal disease [ORDO Disease]
- Peroxisomal diseases [ICD-11 Category]
- Peroxisomal disorders [ICD-9 code]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
- peroxisomal disorders [MeSH concept]
- peroxisomal disorders [MeSH Descriptor]
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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