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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3324381018 Bilateral microtia with deafness and cleft palate syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Pathological process Pathological developmental process true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Congenital smallness true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Finding site Right external ear structure true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Finding site Palatal structure true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Finding site Left external ear structure true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Is a Bilateral congenital malformation of external ears true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Finding site Bone structure of head false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Microtia true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Cleft palate true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a Congenital anomaly of right ear false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Interprets Hearing true Inferred relationship Some 4
Bilateral microtia with deafness and cleft palate syndrome Interprets Functional observable false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Congenital smallness false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome Finding site Right external ear structure false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Congenital smallness false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Finding site Palatal structure false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome Finding site Left external ear structure false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Occurrence Congenital true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Finding site Palatal structure false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Is a Congenital anomaly of left ear false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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