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719468005: Cleft palate with stapes fixation and oligodontia 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
3316253012 Cleft palate with stapes fixation and oligodontia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316254018 Cleft palate with stapes fixation and oligodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402128014 A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402129018 A rare congenital malformation syndrome characterised by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. 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
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Congenital anomaly of pharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Disorder of oral soft tissues (disorder) false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Congenital fusion of ossicles of ear true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Partial congenital absence of teeth false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Cleft palate false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Anodontia of primary dentition false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Disorder of nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Disorder of oropharynx (disorder) false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Congenital abnormality of nose and nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Entire deciduous tooth (body structure) false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Entire deciduous tooth (body structure) false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Soft palate structure false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Stapes structure true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Soft palate structure true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Cleft of soft palate (disorder) true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Entire deciduous tooth (body structure) false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Entire deciduous tooth (body structure) false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Palate finding false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Absence (morphologic abnormality) false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Developmental absence of tooth true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Dentition true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a Oligodontia true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Fusion true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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