Ectodermal Dysplasia-Skin Fragility Syndrome

Preferred Label : Ectodermal Dysplasia-Skin Fragility Syndrome;

CISMeF synonym : Ectodermal dysplasia/ skin fragility syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530644;

UMLS CUI

C1858302;

Automatic exact mappings (from CISMeF team)
- plakophilin 1 [ORDO Gene]
- plakophilin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Ectodermal dysplasia – skin fragility syndrome [ICD-11 More detail]
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
- Ectodermal dysplasia/skin fragility syndrome [OMIM Phenotype]
- Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) [SNOMED CT concept]
Related record
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
- Ectodermal dysplasia/skin fragility syndrome [OMIM Phenotype]
- Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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