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783742004: Conductive hearing loss, malformation of external ear syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760129010 A very rare syndromic genetic deafness with characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760123011 Conductive hearing loss, malformation of external ear syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760124017 Conductive deafness, malformed external ear syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760125016 Mengel Konigsmark syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760128019 Conductive hearing loss, malformation of external ear syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A very rare syndromic genetic deafness with characteristics of 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 Congenital conductive hearing loss true Inferred relationship Some
A very rare syndromic genetic deafness with characteristics of 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. Interprets Hearing true Inferred relationship Some 2
A very rare syndromic genetic deafness with characteristics of 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. Occurrence Congenital true Inferred relationship Some 1
A very rare syndromic genetic deafness with characteristics of 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. Finding site External ear structure true Inferred relationship Some 1
A very rare syndromic genetic deafness with characteristics of 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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A very rare syndromic genetic deafness with characteristics of 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 Congenital abnormality of external ear true Inferred relationship Some
A very rare syndromic genetic deafness with characteristics of 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. Has interpretation Decreased true Inferred relationship Some 2
A very rare syndromic genetic deafness with characteristics of 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 Genetic disease true Inferred relationship Some
A very rare syndromic genetic deafness with characteristics of 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. Associated morphology Morphologically abnormal structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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