X-Linked Ichthyosis

Preferred Label : X-Linked Ichthyosis;

NCIt synonyms : Ichthyosis, X-linked;

NCIt related terms : X-linked placental steryl-sulfatase deficiency;

NCIt definition : The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin manifestations. The skin changes appear at birth and include keratinization and scaling.;

Détails

Origin ID

C84779;

UMLS CUI

C0079588;

CISMeF manual mappings
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Ichthyosis, X-linked [OMIM Phenotype]
- Recessive X-linked ichthyosis [ORDO Disease]
- Syndromic recessive X-linked ichthyosis [ORDO Disease]
- X linked ichthyosis [Disease (Nov.)]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- ichthyosis, X-Linked [MeSH concept]
- ichthyosis, x-linked [MeSH Descriptor]
- sex-linked ichthyosis [SNOMED Notion]
- steryl-sulfatase deficiency [SNOMED Notion]
DO Cross reference
- X-linked ichthyosis [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, X-linked [OMIM Phenotype]
- X linked ichthyosis [Disease (Nov.)]
- X-linked ichthyosis [MedDRA LLT]
- X-linked ichthyosis [ICD-10 Sub-category]
- X-linked ichthyosis [DO Concept]
- X-linked ichthyosis [ICD-11 Sub-sub category]
- X-linked ichthyosis [ICD-10 Sub-category (who)]
- X-linked ichthyosis syndrome [ORDO Disease]
- X-linked ichthyosis with steryl-sulfatase deficiency (disorder) [SNOMED CT concept]
- X-linked recessive ichthyosis (disorder) [Inactive SNOMED CT concept]
- ichthyosis, X-Linked [MeSH concept]
- ichthyosis, x-linked [MeSH Descriptor]
- sex-linked ichthyosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Syndromic recessive X-linked ichthyosis (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- STS Gene [NCIt concept]

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

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