275259005: Congenital malformation of ear (disorder)

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

\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)

\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of ear (disorder)	Is a	Congenital anomaly of ear	false	Inferred relationship	Some
Congenital malformation of ear (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of ear (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital malformation of ear (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation of ear (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital malformation of ear (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Congenital malformation of ear (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital malformation of ear (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Congenital malformation of ear (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation of ear (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Zygo-auro-mandibular dysostosis	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Temporo-aural dysostosis	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Otomandibular dysostosis	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital stricture of osseous meatus of middle ear	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Vascular malformation of inner ear	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Microtia	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Polyotia	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Double auditory canal	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital stricture of external auditory canal	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital fusion of ossicles of ear	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital cervicoaural fistula	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Incomplete development of membranous labyrinth	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital absence of ear	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital atresia of external auditory canal	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Pleonotia	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital abnormal shape of inner ear	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital abnormal shape of pinna	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital abnormal shape of auditory ossicles	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Auriculo-condylar syndrome	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital abnormality of external ear	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital anomaly of inner ear	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital anomaly of middle ear	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital malformation of eye, ear and neck (disorder)	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Ear, face and neck congenital anomalies	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital anomaly of ear with impairment of hearing	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital anomaly of right ear (disorder)	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Congenital anomaly of left ear (disorder)	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Auriculoocular anomaly and cleft lip syndrome	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	Is a	False	Congenital malformation of ear (disorder)	Inferred relationship	Some
Temporo-auro-mandibular dysostosis	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder)	Due to	True	Congenital malformation of ear (disorder)	Inferred relationship	Some	3
Congenital malformation of left ear with impairment of hearing	Due to	True	Congenital malformation of ear (disorder)	Inferred relationship	Some	2
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder)	Due to	True	Congenital malformation of ear (disorder)	Inferred relationship	Some	2
Congenital short ear	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.	Is a	True	Congenital malformation of ear (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
411219018	Congenital malformation of ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
668108011	Congenital malformation of ear (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006517019	Malformation of ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006531019	Congenital abnormality of ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006557016	Congenital anomaly of ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006581011	Congenital deformity of ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
179431000172115	malformation congénitale de l'oreille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
394621000274111	Angeborene Fehlbildung des Ohrs	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module