Preferred Name

过氧化物酶体病 / Peroxisomal diseases

Definitions

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.

ID

http://purl.bmicc.cn/ontology/ICD11CN/5C57

Coded_Elsewhere

Glutaric aciduria type 3 (5C50.E0)

Primary hyperoxaluria type 1 (5C51.20)

Adrenoleukodystrophy (8A44.1)

Rhizomelic chondrodysplasia punctata (LD24.04)

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.

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/782299726

label

过氧化物酶体病 / Peroxisomal diseases

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/E70-E90

notation

5C57

prefixIRI

ICD11CN:C57

prefLabel

过氧化物酶体病 / Peroxisomal diseases

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/L2-5C5

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