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 | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Congenital anomaly of palate | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Diastema of teeth (finding) | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | interprète (attribut) | Spacing of teeth (observable entity) | true | Inferred relationship | Some | 4 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | a pour interprétation (attribut) | augmenté | true | Inferred relationship | Some | 4 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | localisation d'une constatation (attribut) | dents | true | Inferred relationship | Some | 1 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 2 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets