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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
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 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) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital 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) survenue (attribut) congénital 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) localisation d'une constatation (attribut) Entire deciduous tooth false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) Entire deciduous tooth false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital abnormal number false Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Palate finding false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) 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) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) false Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Developmental absence of tooth (disorder) true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital abnormal number true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) dents true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Oligodontia true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Fusion true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital abnormal number false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Congenital anomaly of pharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Disorder of oral soft tissues (disorder) false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Congenital fusion of ossicles of ear (disorder) true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Partial congenital absence of teeth false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) fente palatine false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Anodontia of primary dentition false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Disorder of nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Disorder of oropharynx (disorder) false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Congenital abnormality of nose and nasopharynx false Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) Entire deciduous tooth false Inferred relationship Some 5
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) Entire deciduous tooth false Inferred relationship Some 7
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) palais mou (structure corporelle) false Inferred relationship Some 6
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) Stapes structure true Inferred relationship Some 4
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) localisation d'une constatation (attribut) palais mou (structure corporelle) true Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) Cleft of soft palate true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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