737344003: Congenital conductive hearing loss (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss

\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss
\Ear and auditory finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss

\Functional finding\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss
\Functional finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss
\Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss

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

3527478013 Congenital conductive hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3527479017 Congenital conductive hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5946841000241114 surdité congénitale de transmission fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5946851000241112 perte auditive de transmission congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital conductive hearing loss	Is a	Conductive hearing loss	true	Inferred relationship	Some
Congenital conductive hearing loss	Is a	Decreased hearing	true	Inferred relationship	Some
Congenital conductive hearing loss	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Congenital conductive hearing loss	Interprets	entité observable fonctionnelle	false	Inferred relationship	Some
Congenital conductive hearing loss	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital conductive hearing loss	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital conductive hearing loss	Finding site	Ear structure	false	Inferred relationship	Some	3
Congenital conductive hearing loss	Has interpretation	Decreased	true	Inferred relationship	Some	4
Congenital conductive hearing loss	Interprets	Hearing	true	Inferred relationship	Some	4
Congenital conductive hearing loss	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital conductive hearing loss	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital conductive hearing loss	Finding site	Ear structure	true	Inferred relationship	Some	1
Congenital conductive hearing loss	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Is a	True	Congenital conductive hearing loss	Inferred relationship	Some
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.	Is a	True	Congenital conductive hearing loss	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	Is a	True	Congenital conductive hearing loss	Inferred relationship	Some
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	Is a	True	Congenital conductive hearing loss	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	True	Congenital conductive hearing loss	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3527478013	Congenital conductive hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527479017	Congenital conductive hearing loss (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5946841000241114	surdité congénitale de transmission	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5946851000241112	perte auditive de transmission congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module