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717909004: Bilateral microtia with deafness and cleft palate syndrome (disorder)


Status: current, Not 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
3324380017 Bilateral microtia with deafness and cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324381018 Bilateral microtia with deafness and cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324379015 Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bilateral microtia with deafness and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Right external ear structure true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Left external ear structure true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Congenital malformation of bilateral external ears (disorder) true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) microtie (trouble) true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of right ear (disorder) false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Bilateral microtia with deafness and cleft palate syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Right external ear structure false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Left external ear structure false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of left ear (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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