Autosomal recessive hypohidrotic ectodermal dysplasia

Preferred Label : Autosomal recessive hypohidrotic ectodermal dysplasia;

ICD-11 definition : Ectodermal hypohidrotic or anhidrotic dysplasia is an ectodermal dysplasia syndrome characterized by decreased or absent sudation, intolerance to heat, dry, sparse hair, very fine skin, total or partial lack of teeth, characteristic facial dysmorphism, all of which are often associated with ocular, digestive, or pulmonary disorders.;

Details

Origin ID

7083042;

UMLS CUI

C0406702;

Currated CISMeF NLP mapping
- Autosomal Recessive Hypohidrotic Ectodermal Dysplasia [NCIt concept]
- 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.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Hypohidrotic Ectodermal Dysplasia [NCIt concept]
- 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.)]

Keyword's position in hierarchy(ies) :

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