Genodermatosis

Preferred Label : Genodermatosis;

NCIt definition : A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita.;

Details

Origin ID

C156032;

UMLS CUI

C0037277;

CISMeF manual mappings
- Genodermatosis (disorder) [SNOMED CT concept]
DO Cross reference
- skin disease [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genodermatosis (disorder) [SNOMED CT concept]
- Rare genetic skin disease [ORDO Disease]
- genodermatosis [Disease (Nov.)]
- skin diseases, genetic [MeSH Descriptor]
- skin diseases, genetic [MeSH concept]
Validated automatic mappings to NTBT
- congenital anomaly of skin, nos [SNOMED Notion]
- skin disease [DO Concept]
- skin diseases, genetic [MeSH Descriptor]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]

Keyword's position in hierarchy(ies) :

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