Congenital conductive hearing impairment

Symptom Information:

Symptom ID: HPO:0008591
Synonyms:
Congenital conductive deafness [HPO:0008591]
Congenital conductive hearing loss [HPO:0008591]
Conductive hearing loss [Orphanet:13680]
Conductive hearing loss (disorder) [Orphanet:13680]
Congenital conductive deafness [OMIM:Congenital conductive deafness]
Congenital conductive hearing loss [OMIM:Congenital conductive hearing loss]
Conductive deafness/hearing loss [Orphanet:13680]
Conductive deafness [Orphanet:13680]
Conductive deafness [MedDRA:10010280]
Conductive deafness (excl otosclerosis) [MedDRA:10010280]
Conductive hearing loss [MedDRA:10010280]
Conductive hearing loss of combined types [MedDRA:10010280]
Conductive hearing loss, external ear [MedDRA:10010280]
Conductive hearing loss, inner ear [MedDRA:10010280]
Conductive hearing loss, middle ear [MedDRA:10010280]
Conductive hearing loss, tympanic membrane [MedDRA:10010280]
Conductive hearing loss, unspecified [MedDRA:10010280]
Deafness conductive (excl otosclerosis) [MedDRA:10010280]
Deafness middle ear [MedDRA:10010280]
Deafness middle ear type [MedDRA:10010280]
Deafness partial conductive (excl otosclerosis) [MedDRA:10010280]
Partial conductive deafness [MedDRA:10010280]
Conductive hearing loss (30% of patients) [OMIM:Conductive hearing loss (30% of patients)]
Conductive hearing loss (in a subset of patients) [OMIM:Conductive hearing loss (in a subset of patients)]
Deafness, conductive [OMIM:Deafness, conductive]
Deafness, conductive (in some patients) [OMIM:Deafness, conductive (in some patients)]
Hearing loss, conductive (in some patients) [OMIM:Hearing loss, conductive (in some patients)]
Hearing loss, conductive (rare) [OMIM:Hearing loss, conductive (rare)]
Quality:
Cross references:
HPO:0008513 "Bilateral conductive hearing impairment" [Orphanet:13680]
HPO:0000405 "Conductive hearing impairment" [Orphanet:13680]
Orphanet:13680 "Conductive deafness/hearing loss" [Orphanet:13680]
OMIM: "Congenital conductive deafness" [OMIM:Congenital conductive deafness]
OMIM: "Congenital conductive hearing loss" [OMIM:Congenital conductive hearing loss]
OMIM: "Conductive hearing loss (30% of patients)" [OMIM:Conductive hearing loss (30% of patients)]
OMIM: "Conductive hearing loss (in a subset of patients)" [OMIM:Conductive hearing loss (in a subset of patients)]
OMIM: "Deafness, conductive" [OMIM:Deafness, conductive]
OMIM: "Deafness, conductive (in some patients)" [OMIM:Deafness, conductive (in some patients)]
OMIM: "Hearing loss, conductive (in some patients)" [OMIM:Hearing loss, conductive (in some patients)]
OMIM: "Hearing loss, conductive (rare)" [OMIM:Hearing loss, conductive (rare)]
UMLS:C0018777 "Conductive hearing loss" [Orphanet:13680]
Is a (Direct Parents):
HPO         Conductive hearing impairment
MedDRA Hearing impairment
Orphanet Hearing impairment
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Abnormality of the middle ear(HPO:0000370)
             Functional abnormality of the middle ear(HPO:0011452)
                Conductive hearing impairment(HPO:0000405)
                   Congenital conductive hearing impairment(HPO:0008591)
          Hearing abnormality(HPO:0000364)
             Hearing impairment(HPO:0000365)
                Conductive hearing impairment(HPO:0000405)
                   Congenital conductive hearing impairment(HPO:0008591)
MedDRA:
Ear and labyrinth disorders(MedDRA:10013993)
    Hearing disorders(MedDRA:10019243)
       Hearing impairment(HPO:0000365)
          Congenital conductive hearing impairment(HPO:0008591)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       Hearing disorders congenital(MedDRA:10019244)
          Hearing impairment(HPO:0000365)
             Congenital conductive hearing impairment(HPO:0008591)
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Floating-Harbor syndrome (Orphanet:2044)
Multiple epiphyseal dysplasia, Beighton type (Orphanet:166011)
OSSICULAR MALFORMATIONS, FAMILIAL (OMIM:165680)
PARAGANGLIOMAS 1 (OMIM:168000)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Thickened earlobes - conductive deafness (Orphanet:2405)