Ichthyosis vulgaris

Preferred Label : Ichthyosis vulgaris;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis simplex;

Inheritance : Autosomal dominant; Autosomal recessive (in some patients);

Molecular basis : Caused by mutation in the filaggrin gene (FLG, 135940.0001);

Prefixed ID : #146700;

Détails

Origin ID

146700;

UMLS CUI

C0079584;

Currated CISMeF NLP mapping
- Autosomal dominant ichthyosis vulgaris [ORDO Disease]
- Dominant congenital ichthyosiform erythroderma (disorder) [Inactive SNOMED CT concept]
- dominant congenital ichthyosiform erythroderma [SNOMED Notion]
DO Cross reference
- ichthyosis vulgaris [DO Concept]
Genes related to phenotype
- Filaggrin [OMIM gene]
HPO term(s)
- Absent keratohyalin granules [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Dry skin [HPO term]
- Eczematoid dermatitis [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Keratosis pilaris [HPO term]
- Palmar hyperlinearity [HPO term]
ORDO concept(s)
- Autosomal dominant ichthyosis vulgaris [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant ichthyosis vulgaris [ORDO Disease]
- Dominant congenital ichthyosiform erythroderma (disorder) [Inactive SNOMED CT concept]
- Ichthyosis Vulgaris [NCIt concept]
- Ichthyosis vulgaris [ICD-10 Sub-category (who)]
- Ichthyosis vulgaris [MedDRA LLT]
- Ichthyosis vulgaris [ICD-10 Sub-category]
- Ichthyosis vulgaris [PASCAL descriptor]
- Ichthyosis vulgaris [ICD-11 Sub-sub category]
- Ichthyosis vulgaris (disorder) [SNOMED CT concept]
- dominant congenital ichthyosiform erythroderma [SNOMED Notion]
- ichthyosis vulgaris [MeSH Descriptor]
- ichthyosis vulgaris [MeSH concept]
- ichthyosis vulgaris [DO Concept]
- ichthyosis vulgaris [Disease (Nov.)]
Validated automatic mappings to BTNT
- Autosomal dominant ichthyosis vulgaris (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Ichthyosis Vulgaris [NCIt concept]
- Ichthyosis vulgaris [PASCAL descriptor]
- Ichthyosis vulgaris [ICD-10 Sub-category]
- Ichthyosis vulgaris [ICD-11 Sub-sub category]
- Ichthyosis vulgaris [ICD-10 Sub-category (who)]
- Ichthyosis vulgaris [MedDRA LLT]
- Ichthyosis vulgaris (disorder) [SNOMED CT concept]
- ichthyosis vulgaris [DO Concept]
- ichthyosis vulgaris [Disease (Nov.)]
- ichthyosis vulgaris [MeSH Descriptor]
- ichthyosis vulgaris [MeSH concept]

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

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