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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
5401627015 A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401628013 A rare genetic, orofacial clefting syndrome characterised by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. 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) Is a Microtia true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Congenital anomaly of right ear (disorder) false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Interprets Hearing true Inferred relationship Some 4
Bilateral microtia with deafness and cleft palate syndrome (disorder) Interprets Functional observable false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Right external ear structure false Inferred relationship Some 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Left external ear structure (body structure) false Inferred relationship Some 6
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Congenital anomaly of left ear (disorder) false Inferred relationship Some
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) Associated morphology Congenital smallness false 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) Occurrence Congenital true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Right external ear structure true Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site Left external ear structure (body structure) true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Congenital malformation of bilateral external ears (disorder) true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology 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) Finding site Bone structure of head false Inferred relationship Some 5
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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