Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5373336014 | Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373337017 | Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373338010 | Developmental delay, overweight, facial dysmorphism, behavioural abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373339019 | A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5373340017 | A rare overgrowth/obesity syndrome characterised by mild developmental delay (notably speech delay), behaviour abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Developmental mental disorder | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 2 | |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR