Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4636347017 | Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4636348010 | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4636349019 | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4636350019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Congenital anomaly of palate | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Diastema of teeth (finding) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Interprets | Spacing of teeth (observable entity) | true | Inferred relationship | Some | 4 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Has interpretation | Increased | true | Inferred relationship | Some | 4 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Finding site | Dentition | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets