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

http://purl.bmicc.cn/ontology/ICD10CN/G71.0

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

http://id.who.int/icd/release/11/2019-04/mms/396687076

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

http://purl.bmicc.cn/ontology/ICD10CN/G71.0

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/8C70

Delete Subject Author Type Created
No notes to display
Create New Mapping

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