Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3687209013 | Tatton Brown Rahman overgrowth syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3687210015 | DNA methyltransferase 3 alpha overgrowth syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3687211016 | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3687212011 | DNMT3A-related overgrowth syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3687213018 | Tatton Brown Rahman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3687214012 | Tall stature, intellectual disability, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404743019 | A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404744013 | A rare multiple congenital anomalies syndrome characterised by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioural and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Disorder of stature | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR