Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy

Preferred Label : Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KLHL24 gene, encoding kelch-like protein 24. It is characterized by epidermolysis bullosa and dilated cardiomyopathy.;

NCI Metathesaurus CUI : CL1662470;

Details

Origin ID

C179709;

UMLS CUI

C5555869;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy [OMIM Phenotype]
- Intermediate epidermolysis bullosa simplex with cardiomyopathy [ORDO Disease]
- Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KLHL24 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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