Ichthyosis Bullosa of Siemens

Preferred Label : Ichthyosis Bullosa of Siemens;

NCIt definition : A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.;

Détails

Origin ID

C84777;

UMLS CUI

C0432306;

Currated CISMeF NLP mapping
- Ichthyosis bullosa of Siemens (disorder) [SNOMED CT concept]
- Ichthyosis bullosa of siemens [OMIM Phenotype]
- Siemens ichthyosis bullosa [PASCAL descriptor]
- Superficial epidermolytic ichthyosis [ICD-11 More detail]
- Superficial epidermolytic ichthyosis [ORDO Disease]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- ichthyosis bullosa of Siemens [Disease (Nov.)]
- ichthyosis bullosa of siemens [MeSH Descriptor]
- ichthyosis bullosa of siemens [MeSH concept]
- ichthyosis exfoliativa [MeSH concept]
DO Cross reference
- bullous congenital ichthyosiform erythroderma [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis bullosa of Siemens (disorder) [SNOMED CT concept]
- Ichthyosis bullosa of siemens [OMIM Phenotype]
- Siemens ichthyosis bullosa [PASCAL descriptor]
- Superficial epidermolytic ichthyosis [ORDO Disease]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- ichthyosis bullosa of Siemens [Disease (Nov.)]
- ichthyosis bullosa of siemens [MeSH concept]
- ichthyosis bullosa of siemens [MeSH Descriptor]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- COL7A1 Gene [NCIt concept]
- MMP1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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