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 |
| 3316450012 | Cleft palate with short stature and vertebral anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316451011 | Cleft palate with short stature and vertebral anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316452016 | Mathieu De Broca Bony syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402126013 | A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402127016 | A rare, genetic, multiple congenital anomalies syndrome characterised by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. | 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 short stature and vertebral anomaly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 5 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Structure of vertebral column (body structure) | false | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Structure of vertebral column (body structure) | true | Inferred relationship | Some | 1 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Congenital anomaly of musculoskeletal system | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Disorder of vertebral column (disorder) | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR