ectodermal dysplasia 1, anhidrotic

Preferred Label : ectodermal dysplasia 1, anhidrotic;

MeSH definition : An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.;

MeSH synonym : anhydrotic ectodermal dysplasia, x-linked; anhidrotic ectodermal dysplasia, x-linked; anhydrotic ectodermal dysplasia, x linked; christ-siemens-touraine syndrome; christ siemens touraine syndrome; ectodermal dysplasia, hypohydridic, x-linked; X-Linked Hypohydridic Ectodermal Dysplasia; X Linked Hypohydridic Ectodermal Dysplasia; anhidrotic ectodermal dysplasia, x linked; ectodermal dysplasia 1, anhydrotic; ectodermal dysplasia 1; dysplasia 1, ectodermal; ectodermal dysplasia 1s; ectodermal dysplasia, anhidrotic, X-Linked; ectodermal dysplasia, hypohidrotic, X-Linked; CST syndrome; CST syndromes; syndrome, CST; syndromes, CST; hypohidrotic ectodermal dysplasia;

CISMeF synonym : x-linked hypohydridrotic ectodermal dysplasia; x linked hypohydridrotic ectodermal dysplasia;

Wikipedia link : https://en.wikipedia.org/wiki/Hypohidrotic ectodermal dysplasia;

Details

Origin ID

D053358;

UMLS CUI

C0162359;

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]
Automatic exact mappings (from CISMeF team)
- EDA wt Allele [NCIt concept]
- Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anhidrotic Ectodermal Dysplasia 1 [NCIt concept]
- Anhidrotic ectodermal dysplasia [PASCAL descriptor]
- Anhidrotic ectodermal dysplasia [HPO term]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category]
- Ectodermal dysplasia 1, hypohidrotic, X-linked [OMIM Phenotype]
- Hypohidrotic X-linked ectodermal dysplasia (disorder) [SNOMED CT concept]
- Hypohidrotic ectodermal dysplasia [HPO term]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ICD-11 Sub-sub category]
- X-linked hypohidrotic ectodermal dysplasia [ICD-11 More detail]
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 1 [DO Concept]
- hypohidrotic ectodermal dysplasia [DO Concept]
- hypohidrotic ectodermal dysplasia x linked [Disease (Nov.)]
DO Cross reference
- ectodermal dysplasia 1 [DO Concept]
- hypohidrotic ectodermal dysplasia [DO Concept]
HPO term
- Hypohidrotic ectodermal dysplasia [HPO term]
ORDO relation(s)
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
Record concept(s)
- ectodermal dysplasia 1, anhidrotic [MeSH concept]
Related MeSH Supplementary Concept(s)
- hypodontia, X-linked [MeSH Supplementary Concept]
See also
- ectodysplasins [MeSH Descriptor]
See also inter- (CISMeF)
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- Congenital alacrima [ORDO Disease]
- Dentocutaneous disease with cataract [ORDO Disease]
- Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive [OMIM Phenotype]
- Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive [OMIM Phenotype]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anhidrotic Ectodermal Dysplasia 1 [NCIt concept]
- Ectodermal dysplasia 1, hypohidrotic, X-linked [OMIM Phenotype]
- Hypohidrotic X-linked ectodermal dysplasia (disorder) [SNOMED CT concept]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- Hypohidrotic ectodermal dysplasia [HPO term]
- X-linked hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 1 [DO Concept]
- hypohidrotic ectodermal dysplasia [DO Concept]
- hypohidrotic ectodermal dysplasia [Disease (Nov.)]
- hypohidrotic ectodermal dysplasia syndrome, nos [SNOMED Notion]
- hypohidrotic ectodermal dysplasia x linked [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hypohidrotic ectodermal dysplasia [HPO term]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- hypohidrotic ectodermal dysplasia [Disease (Nov.)]
- hypohidrotic ectodermal dysplasia [DO Concept]
- hypohidrotic ectodermal dysplasia syndrome, nos [SNOMED Notion]

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