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 |
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)