Preferred Name

地中海贫血 / Thalassaemias

Definitions

A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.

ID

http://purl.bmicc.cn/ontology/ICD11CN/3A50

definition

A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/330259189

label

地中海贫血 / Thalassaemias

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/D56

notation

3A50

prefixIRI

ICD11CN:A50

prefLabel

地中海贫血 / Thalassaemias

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/L1-3A0

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