postlingual non-syndromic genetic hearing loss

Go to external page http://purl.obolibrary.org/obo/MONDO_0016298


Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. [ Orphanet:216452 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:216452 (MONDO:equivalentObsolete)
  • SCTID:764097002 (MONDO:equivalentTo)
  • MEDGEN:1641874 (MONDO:equivalentTo)
  • UMLS:C4706678 (MONDO:equivalentTo)
Subsets

gard_rare, rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/551

exactMatch

http://identifiers.org/medgen/1641874

http://linkedlifedata.com/resource/umls/id/C4706678

http://identifiers.org/snomedct/764097002

has narrow synonym

postlingual non-syndromic genetic deafness

isolated postlingual genetic deafness

id

MONDO:0016298

Term relations