35045004: Microtia (disorder)

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

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

\Ear, nose and throat finding (finding)\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Microtia (disorder)
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia (disorder)

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microtia (disorder)	Is a	Congenital abnormality of external ear	true	Inferred relationship	Some
Microtia (disorder)	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Microtia (disorder)	Associated morphology	kongenit hypoplasi	false	Inferred relationship	Some	1
Microtia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Microtia (disorder)	Finding site	External ear structure	true	Inferred relationship	Some	1
Microtia (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Microtia (disorder)	Associated morphology	kongenit hypoplasi	false	Inferred relationship	Some	1
Microtia (disorder)	Finding site	External ear structure	false	Inferred relationship	Some	1
Microtia (disorder)	Is a	Congenital malformation of ear	false	Inferred relationship	Some
Microtia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Microtia (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Microtia (disorder)	Finding site	External ear structure	false	Inferred relationship	Some	2
Microtia (disorder)	Finding site	External ear structure	false	Inferred relationship	Some	3
Microtia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Microtia (disorder)	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	3
Microtia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microtia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microtia (disorder)	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	1
Microtia (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	True	Microtia (disorder)	Inferred relationship	Some
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Is a	True	Microtia (disorder)	Inferred relationship	Some
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	Is a	True	Microtia (disorder)	Inferred relationship	Some
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	Is a	True	Microtia (disorder)	Inferred relationship	Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	Is a	True	Microtia (disorder)	Inferred relationship	Some
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	Is a	True	Microtia (disorder)	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	Microtia (disorder)	Inferred relationship	Some
Reconstruction of microtia with free flap (procedure)	Has focus	True	Microtia (disorder)	Inferred relationship	Some	2
Reconstruction of microtia with graft (procedure)	Has focus	True	Microtia (disorder)	Inferred relationship	Some	3
Reconstruction of microtia with flap (procedure)	Has focus	True	Microtia (disorder)	Inferred relationship	Some	2
Reconstruction of microtia with microvascular anastomosis (procedure)	Has focus	True	Microtia (disorder)	Inferred relationship	Some	3
Reconstruction of microtia with free flap and microvascular anastomosis	Has focus	True	Microtia (disorder)	Inferred relationship	Some	1
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Is a	True	Microtia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
58483017	Microtia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486040018	Congenital small ears	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766640018	Microtia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2034091000005118	Mikroti	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)