43353004: Congenital anomaly of inner ear (disorder)

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

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

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

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of inner ear	Is a	kongenit anomali af øre	false	Inferred relationship	Some
Congenital anomaly of inner ear	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of inner ear	Finding site	Inner ear structure	false	Inferred relationship	Some	1
Congenital anomaly of inner ear	Is a	Disorder of inner ear	true	Inferred relationship	Some
Congenital anomaly of inner ear	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of inner ear	Finding site	Inner ear structure	false	Inferred relationship	Some	1
Congenital anomaly of inner ear	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of inner ear	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of inner ear	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of inner ear	Finding site	Inner ear structure	false	Inferred relationship	Some	2
Congenital anomaly of inner ear	Is a	Congenital malformation of ear	true	Inferred relationship	Some
Congenital anomaly of inner ear	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of inner ear	Finding site	Inner ear structure	true	Inferred relationship	Some	1
Congenital anomaly of inner ear	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of inner ear	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital aplasia of inner ear	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Neurofibromatosis type 2	Is a	False	Congenital anomaly of inner ear	Inferred relationship	Some
Congenital abnormal shape of inner ear	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Congenital deafness	Is a	False	Congenital anomaly of inner ear	Inferred relationship	Some
Hutchinson's triad	Is a	False	Congenital anomaly of inner ear	Inferred relationship	Some
Structural anomaly of the cochlea and vestibular labyrinth	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Vascular malformation of inner ear	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Congenital anomaly of membranous labyrinth	Is a	False	Congenital anomaly of inner ear	Inferred relationship	Some
anomalier af indre øre, ikke nærmere specificeret	Is a	False	Congenital anomaly of inner ear	Inferred relationship	Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some
A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	Is a	True	Congenital anomaly of inner ear	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
72332012	Congenital anomaly of inner ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780355017	Congenital anomaly of inner ear (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006548010	Congenital malformation of inner ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3787195019	Congenital abnormality of inner ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2997601000005114	kongenit anomali i indre øre	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)