Deafness, progressive, with stapes fixation

Preferred Label : Deafness, progressive, with stapes fixation;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601449;

Details

Origin ID

601449;

UMLS CUI

C1832354;

Automatic exact mappings (from CISMeF team)
- Progressive deafness with stapes fixation [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Progressive deafness with stapes fixation [ORDO Disease]
- Progressive deafness with stapes fixation (disorder) [SNOMED CT concept]
- deafness, progressive, with stapes fixation [MeSH concept]
- deafness, progressive, with stapes fixation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Bilateral conductive hearing loss [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Stapes ankylosis [HPO term]
ORDO concept(s)
- Progressive deafness with stapes fixation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive deafness with stapes fixation [ORDO Disease]
- Progressive deafness with stapes fixation (disorder) [SNOMED CT concept]
- deafness, progressive, with stapes fixation [MeSH Supplementary Concept]
- deafness, progressive, with stapes fixation [MeSH concept]

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