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1260199008: Non-syndromic genetic hearing loss (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5159685018 Non-syndromic genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159686017 Non-syndromic genetic hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159687014 Non-syndromic genetic hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159688016 Isolated genetic hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159689012 Isolated genetic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159690015 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. The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear and the outer ear). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-syndromic genetic hearing loss Is a Decreased hearing (finding) true Inferred relationship Some
Non-syndromic genetic hearing loss Is a Hearing loss true Inferred relationship Some
Non-syndromic genetic hearing loss Is a Genetic disease true Inferred relationship Some
Non-syndromic genetic hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Non-syndromic genetic hearing loss Interprets Hearing true Inferred relationship Some 1
Non-syndromic genetic hearing loss Has interpretation Decreased true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Postlingual non-syndromic genetic deafness Is a True Non-syndromic genetic hearing loss Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) Is a True Non-syndromic genetic hearing loss Inferred relationship Some

This concept is not in any reference sets

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