Ectodermal dysplasia and neurosensory deafness

Preferred Label : Ectodermal dysplasia and neurosensory deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Mikaelian et al. (1970) described brother and sister whose parents were first cousins and who had hidrotic ectodermal dysplasia, sensorineural hearing loss (due probably to a defect of cells of the organ of Corti which are of ectodermal origin), and contracture of the fifth fingers. The sister also had thoracic scoliosis. *FIELD* RF 1. Mikaelian, D. O.; Der Kaloustian, V. M.; Shahin, N. A.; Barsoumian, V. M.: Congenital ectodermal dysplasia with hearing loss. Arch. Otolaryng. 92: 85-89, 1970. *FIELD* CS Skin: Hidrotic ectodermal dysplasia;

Inheritance : Autosomal recessive;

Prefixed ID : 224800;

Details

Origin ID

224800;

UMLS CUI

C1857068;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia - sensorineural deafness [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ectodermal dysplasia-sensorineural deafness syndrome [ORDO Disease]
- ectodermal dysplasia and neurosensory deafness [MeSH concept]
- ectodermal dysplasia and neurosensory deafness [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hidrotic ectodermal dysplasia [HPO term]
- Joint contracture of the hand [HPO term]
- Sensorineural hearing impairment [HPO term]
- Thoracic scoliosis [HPO term]
ORDO concept(s)
- Ectodermal dysplasia-sensorineural deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-sensorineural deafness syndrome [ORDO Disease]
- ectodermal dysplasia and neurosensory deafness [MeSH Supplementary Concept]
- ectodermal dysplasia and neurosensory deafness [MeSH concept]

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