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 |
| 769091000241119 | syndrome de grande taille-déficience intellectuelle-dysmorphie faciale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 975851000172111 | syndrome de grande taille-déficience intellectuelle-dysmorphie faciale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 994011000172112 | syndrome de Tatton-Brown-Rahman | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3687215013 | A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with early overgrowth (disorder) | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | anomalie staturale | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR