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35045004: Microtia (disorder)

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

Descriptions:

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
998361000172119 microtie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408531001000113 Mikrotie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microtia Is a Congenital abnormality of external ear true Inferred relationship Some
Microtia Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Microtia Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Microtia Occurrence Congenital false Inferred relationship Some
Microtia Finding site External ear structure true Inferred relationship Some 1
Microtia Is a Congenital malformation false Inferred relationship Some
Microtia Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Microtia Finding site External ear structure false Inferred relationship Some 1
Microtia Is a Congenital malformation of ear (disorder) false Inferred relationship Some
Microtia Occurrence Congenital false Inferred relationship Some 2
Microtia Associated morphology anomalie du développement false Inferred relationship Some 2
Microtia Finding site External ear structure false Inferred relationship Some 2
Microtia Finding site External ear structure false Inferred relationship Some 3
Microtia Occurrence Congenital false Inferred relationship Some 3
Microtia Associated morphology Congenital smallness false Inferred relationship Some 3
Microtia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microtia Occurrence Congenital true Inferred relationship Some 1
Microtia Associated morphology Congenital smallness false Inferred relationship Some 1
Microtia 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 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 Inferred relationship Some
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Is a True Microtia 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 Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a True Microtia 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 Inferred relationship Some
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Is a True Microtia Inferred relationship Some
Reconstruction of microtia with free flap (procedure) Has focus True Microtia Inferred relationship Some 2
Reconstruction of microtia with graft (procedure) Has focus True Microtia Inferred relationship Some 3
Reconstruction of microtia with flap (procedure) Has focus True Microtia Inferred relationship Some 2
Reconstruction of microtia with microvascular anastomosis (procedure) Has focus True Microtia Inferred relationship Some 3
Reconstruction of microtia with free flap and microvascular anastomosis Has focus True Microtia 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 Inferred relationship Some

This concept is not in any reference sets

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