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Preferred Name

营养不良性大疱性表皮松懈症 / Dystrophic epidermolysis bullosa
Definitions

Dystrophic (dermolytic) epidermolysis bullosa is due to defects in or absence of type VII collagen. As a result the anchoring fibrils which secure the epidermal basement membrane to the dermis are defective or absent. The severe recessive form causes extensive scarring and predisposes to aggressive squamous cell carcinoma.
ID

http://purl.bmicc.cn/ontology/ICD11CN/EC32
definition

Dystrophic (dermolytic) epidermolysis bullosa is due to defects in or absence of type VII collagen. As a result the anchoring fibrils which secure the epidermal basement membrane to the dermis are defective or absent. The severe recessive form causes extensive scarring and predisposes to aggressive squamous cell carcinoma.
hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/1060981106
label

营养不良性大疱性表皮松懈症 / Dystrophic epidermolysis bullosa
mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/Q81.2
notation

EC32
prefixIRI

ICD11CN:EC32
prefLabel

营养不良性大疱性表皮松懈症 / Dystrophic epidermolysis bullosa
subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/L2-EC3
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU023422 Online Mendelian Inheritance in Man LOOM