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737377004: Congenital mixed conductive and sensorineural hearing loss (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3527591011 Congenital mixed conductive and sensorineural hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3527592016 Congenital mixed conductive and sensorineural hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5896161000241116 perte auditive congénitale mixte de conduction et de perception fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896171000241112 perte auditive congénitale mixte de transmission et de perception fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital mixed conductive and sensorineural hearing loss Is a Mixed conductive AND sensorineural hearing loss true Inferred relationship Some
Congenital mixed conductive and sensorineural hearing loss Is a Congenital hearing disorder false Inferred relationship Some
Congenital mixed conductive and sensorineural hearing loss Interprets entité observable fonctionnelle false Inferred relationship Some
Congenital mixed conductive and sensorineural hearing loss Occurrence Congenital false Inferred relationship Some 2
Congenital mixed conductive and sensorineural hearing loss Finding site Ear structure false Inferred relationship Some 2
Congenital mixed conductive and sensorineural hearing loss Interprets Hearing true Inferred relationship Some 2
Congenital mixed conductive and sensorineural hearing loss Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Congenital mixed conductive and sensorineural hearing loss Occurrence Congenital true Inferred relationship Some 1
Congenital mixed conductive and sensorineural hearing loss Finding site Ear structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myhre syndrome Is a True Congenital mixed conductive and sensorineural hearing loss Inferred relationship Some
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Is a True Congenital mixed conductive and sensorineural hearing loss Inferred relationship Some
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Is a True Congenital mixed conductive and sensorineural hearing loss Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a True Congenital mixed conductive and sensorineural hearing loss Inferred relationship Some

This concept is not in any reference sets

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