Preferred Name |
先天性肌营养不良症 / Congenital muscular dystrophy |
Definitions |
Congenital muscular dystrophies with central nervous system abnormalities are a heterogeneous group of autosomal recessively inherited degenerative muscle disorders associated with cerebral and cerebellar dysplasia, white matter abnormalities and ocular abnormalities in some subtypes. |
ID |
http://purl.bmicc.cn/ontology/ICD11CN/8C70.6 |
broadMatch | |
definition |
Congenital muscular dystrophies with central nervous system abnormalities are a heterogeneous group of autosomal recessively inherited degenerative muscle disorders associated with cerebral and cerebellar dysplasia, white matter abnormalities and ocular abnormalities in some subtypes. |
hasDbXref | |
label |
先天性肌营养不良症 / Congenital muscular dystrophy |
notation |
8C70.6 |
prefixIRI |
ICD11CN:C70.6 |
prefLabel |
先天性肌营养不良症 / Congenital muscular dystrophy |
translation | |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_0050557 | Human Disease Ontology 123 | LOOM | |
http://purl.bioontology.org/ontology/OMIM/MTHU011030 | Online Mendelian Inheritance in Man | LOOM |