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719468005: Cleft palate with stapes fixation and oligodontia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3316254018 Cleft palate with stapes fixation and oligodontia syndrome en Synonym Active Case insensitive SNOMED CT core
3316457010 Syndrome with characteristics of 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. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. en Definition Active Case sensitive 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 Pathological process Pathological developmental process true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome Finding site Entire deciduous tooth false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Finding site Entire deciduous tooth false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital abnormal number false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Is a Palate finding false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Finding site Bone structure of head false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Absence false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Is a Developmental absence of tooth true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital abnormal number true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Finding site Dentition true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Absence true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome Finding site Tooth structure true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome Is a Oligodontia true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Fusion true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital abnormal number false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital absence false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome Is a Congenital anomaly of pharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Disorder of oral soft tissues false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Congenital fusion of ossicles of ear true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Partial congenital absence of teeth false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Cleft palate false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Anodontia of primary dentition false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Disorder of nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Disorder of oropharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Congenital abnormality of nose and nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Finding site Entire deciduous tooth false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome Finding site Entire deciduous tooth false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome Finding site Soft palate structure false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome Finding site Stapes structure true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Occurrence Congenital true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Finding site Soft palate structure true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Is a Cleft of soft palate true 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

Unit of use quantity reference set

Description inactivation indicator reference set

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