Peroxisomal diseases

ICD-11 code : 5C57;

Preferred Label : Peroxisomal diseases;

ICD-11 definition : Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.;

ICD-11 "other" category code : 5C57.Y;

ICD-11 "unspecified" category code : 5C57.Z;

Details

Origin ID

782299726;

UMLS CUI

C0282528;

Currated CISMeF NLP mapping
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
- Peroxisomal Disorder [NCIt concept]
- Peroxisomal disease [ORDO Disease]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
- peroxisomal disorders [MeSH concept]
- peroxisomal disorders [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
- Peroxisomal Disorder [NCIt concept]
- Peroxisomal disease [ORDO Disease]
- Peroxisomal disorders [ICD-9 code]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
- peroxisomal disorders [MeSH Descriptor]
- peroxisomal disorders [MeSH concept]

Keyword's position in hierarchy(ies) :

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