Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

Preferred Label : Autosomal Recessive Hypohidrotic Ectodermal Dysplasia;

NCIt definition : A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.;

Details

Origin ID

C84580;

UMLS CUI

C0406702;

Currated CISMeF NLP mapping
- Autosomal recessive hypohidrotic ectodermal dysplasia [ICD-11 More detail]
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- autosomal recessive hypohidrotic ectodermal dysplasia syndrome [SNOMED Notion]
- ectodermal dysplasia, hypohidrotic, autosomal recessive [MeSH Descriptor]
- ectodermal dysplasia, hypohidrotic, autosomal recessive [MeSH concept]
- hypohidrotic ectodermal dysplasia autosomal recessive [Disease (Nov.)]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
- Autosomal recessive hypohidrotic ectodermal dysplasia [ICD-11 More detail]
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- autosomal recessive hypohidrotic ectodermal dysplasia syndrome [SNOMED Notion]
- ectodermal dysplasia, hypohidrotic, autosomal recessive [MeSH concept]
- ectodermal dysplasia, hypohidrotic, autosomal recessive [MeSH Descriptor]
- hypohidrotic ectodermal dysplasia autosomal recessive [Disease (Nov.)]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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