Preferred Name

半乳糖激酶缺乏 / Galactokinase deficiency

Definitions

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

ID

http://purl.bmicc.cn/ontology/ICD11CN/5C51.41

broadMatch

http://purl.bmicc.cn/ontology/ICD10CN/E74.2

definition

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/1173858031

label

半乳糖激酶缺乏 / Galactokinase deficiency

notation

5C51.41

prefixIRI

ICD11CN:C51.41

prefLabel

半乳糖激酶缺乏 / Galactokinase deficiency

translation

http://purl.bmicc.cn/ontology/ICD10CN/E74.2

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/5C51.4

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