Deafness-oligodontia syndrome

Preferred Label : Deafness-oligodontia syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Glass and Gorlin (1979) described a brother and sister with congenital profound sensorineural deafness and oligodontia. Certain of the permanent incisors, premolars, and molars were absent in both. Parental consanguinity was denied. The authors concluded that the disorder reported by Lee et al. (1978) may be distinct. *FIELD* RF 1. Glass, L.; Gorlin, R. J.: Congenital profound sensorineural deafness and oligodontia: a new syndrome. Arch. Otolaryng. 105: 621-622, 1979. 2. Lee, M.; Levin, L. S.; Kopstein, E.: Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia. Arch. Otolaryng. 104: 292-293, 1978. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 221740;

Details

Origin ID

221740;

UMLS CUI

C1857333;

Automatic exact mappings (from CISMeF team)
- Deafness - oligodontia [ICD-11 More detail]
- Deafness oligodontia syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Deafness-oligodontia syndrome [ORDO Disease]
- deafness oligodontia syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Diastema [HPO term]
- Oligodontia [HPO term]
ORDO concept(s)
- Deafness-oligodontia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness and oligodontia syndrome (disorder) [SNOMED CT concept]
- Deafness oligodontia syndrome [MeSH concept]
- Deafness-oligodontia syndrome [ORDO Disease]
- deafness oligodontia syndrome [MeSH Supplementary Concept]

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