ectodermal dysplasia, hypohidrotic, autosomal recessive

Preferred Label : ectodermal dysplasia, hypohidrotic, autosomal recessive;

MeSH definition : An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.;

MeSH synonym : anhidridic ectodermal dysplasia, autosomal recessive; anhydridic ectodermal dysplasia, autosomal recessive; Anhidrotic Ectodermal Dysplasia, Autosomal Recessive; ectodermal dysplasia, hypohydrotic, autosomal recessive; autosomal recessive anhidrotic ectodermal dysplasia; autosomal recessive anhydrotic ectodermal dysplasia; ectodermal dysplasia, anhidrotic, autosomal recessive;

Details

Origin ID

D053360;

UMLS CUI

C0406702;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Autosomal Recessive Hypohidrotic Ectodermal Dysplasia [NCIt concept]
- 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]
- hypohidrotic ectodermal dysplasia autosomal recessive [Disease (Nov.)]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
- Prominent lips [HPO term]
- Sparse eyebrows and eyelashes [HPO term]
Manual NTBT mappings (CISMeF)
- Congenital alacrima [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Edar-Associated death domain protein [MeSH Descriptor]
ORDO relation(s)
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
Record concept(s)
- ectodermal dysplasia, hypohidrotic, autosomal recessive [MeSH concept]
See also
- Edar-Associated death domain protein [MeSH Descriptor]
- edar receptor [MeSH Descriptor]
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 [ICD-11 More detail]
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- autosomal recessive hypohidrotic ectodermal dysplasia syndrome [SNOMED Notion]
- hypohidrotic ectodermal dysplasia autosomal recessive [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients