National Drug File - Reference Terminology - Hyperkeratosis, Epidermolytic [Disease/Finding] - Classes | NCBO BioPortal

National Drug File - Reference Terminology

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000003584 http://purl.bioontology.org/ontology/NDFRT/N0000003584
Preferred Name	Hyperkeratosis, Epidermolytic [Disease/Finding]
Synonyms	Hyperkeratosis, Epidermolytic Ichthyosiform Erythroderma, Bullous Congenital Congenital Ichthyosiform Erythroderma, Bullous Bullous Congenital Ichthyosiform Erythroderma Congenital Bullous Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma Congenital Epidermolytic Ichthyosis Bullous Erythroderma Ichthyosiforme Bullous Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita of Brocq Erythroderma Ichthyosiforme, Bullous Epidermolytic Hyperkeratosis See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Hyperkeratosis, Epidermolytic Ichthyosiform Erythroderma, Bullous Congenital Congenital Ichthyosiform Erythroderma, Bullous Bullous Congenital Ichthyosiform Erythroderma Congenital Bullous Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma Congenital Epidermolytic Ichthyosis Bullous Erythroderma Ichthyosiforme Bullous Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita of Brocq Erythroderma Ichthyosiforme, Bullous Epidermolytic Hyperkeratosis See more See less
prefLabel	Hyperkeratosis, Epidermolytic [Disease/Finding]
MESH DEFINITION	A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
MESH DUI	D017488
MESH UI	M0026530
MeSH name	Hyperkeratosis, Epidermolytic
type	http://www.w3.org/2002/07/owl#Class
tui	T019
SNOMED CID	254167000
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000154088 http://purl.bioontology.org/ontology/NDFRT/N0000154089 http://purl.bioontology.org/ontology/NDFRT/N0000165361 http://purl.bioontology.org/ontology/NDFRT/N0000177053 http://purl.bioontology.org/ontology/NDFRT/N0000022873 http://purl.bioontology.org/ontology/NDFRT/N0000191351 http://purl.bioontology.org/ontology/NDFRT/N0000158110 http://purl.bioontology.org/ontology/NDFRT/N0000193490 http://purl.bioontology.org/ontology/NDFRT/N0000154082 http://purl.bioontology.org/ontology/NDFRT/N0000154085 http://purl.bioontology.org/ontology/NDFRT/N0000189300 http://purl.bioontology.org/ontology/NDFRT/N0000154086 http://purl.bioontology.org/ontology/NDFRT/N0000022872 http://purl.bioontology.org/ontology/NDFRT/N0000172047 http://purl.bioontology.org/ontology/NDFRT/N0000147495 http://purl.bioontology.org/ontology/NDFRT/N0000146756 http://purl.bioontology.org/ontology/NDFRT/N0000164479 http://purl.bioontology.org/ontology/NDFRT/N0000165125 http://purl.bioontology.org/ontology/NDFRT/N0000165360 http://purl.bioontology.org/ontology/NDFRT/N0000193426 http://purl.bioontology.org/ontology/NDFRT/N0000191664 http://purl.bioontology.org/ontology/NDFRT/N0000192467 http://purl.bioontology.org/ontology/NDFRT/N0000190444 http://purl.bioontology.org/ontology/NDFRT/N0000154083 http://purl.bioontology.org/ontology/NDFRT/N0000158106 http://purl.bioontology.org/ontology/NDFRT/N0000154090 See more See less
notation	N0000003584
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
NUI	N0000003584
cui	C0079153
NDFRT kind	DISEASE_KIND
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000003367

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