FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

764098007: Prelingual non-syndromic genetic deafness (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3646039018 Isolated prelingual genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646040016 Prelingual non-syndromic genetic deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646041017 Prelingual non-syndromic genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646039018 Isolated prelingual genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646040016 Prelingual non-syndromic genetic deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646041017 Prelingual non-syndromic genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646042012 A rare genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, with typical characteristics of bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
895021000172114 surdité génétique non syndromique prélinguale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959171000172113 surdité génétique isolée prélinguale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895021000172114 surdité génétique non syndromique prélinguale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959171000172113 surdité génétique isolée prélinguale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Prelingual non-syndromic genetic deafness (disorder) Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a Congenital anomaly of ear with impairment of hearing false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 2
Prelingual non-syndromic genetic deafness (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Is a Congenital sensorineural hearing loss (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a Genetic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. true Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Prelingual non-syndromic genetic deafness (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start