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 |
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