Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643799014 | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4643800013 | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4643801012 | Skraban Deardorff syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643802017 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR