Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425869015 | Bindewald Ulmer Muller syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425870019 | Fallot complex with intellectual disability and growth delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425871015 | Fallot complex with intellectual disability and growth delay syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425867018 | A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425868011 | A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
948031000172116 | syndrome de Bindewald-Ulmer-Müller | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1001451000172114 | syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Fallot complex with intellectual disability and growth delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Is a | Tetralogy of Fallot | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Is a | retard mental | false | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Is a | Growth retardation (disorder) | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Hypertrophy | false | Inferred relationship | Some | 8 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Entire right cardiac ventricle | false | Inferred relationship | Some | 8 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 9 | |
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Interventricular septum structure | false | Inferred relationship | Some | 10 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Overriding structures | false | Inferred relationship | Some | 7 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Thoracic aorta structure | false | Inferred relationship | Some | 7 | |
Fallot complex with intellectual disability and growth delay syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Aortic structure | false | Inferred relationship | Some | 9 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Stenosis (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Pulmonary valve structure | false | Inferred relationship | Some | 6 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 10 | |
Fallot complex with intellectual disability and growth delay syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Entire right cardiac ventricle | true | Inferred relationship | Some | 4 | |
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Thoracic aorta structure | true | Inferred relationship | Some | 2 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 4 | |
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Overriding structures | true | Inferred relationship | Some | 2 | |
Fallot complex with intellectual disability and growth delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Pulmonary valve structure | true | Inferred relationship | Some | 1 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Stenosis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Fallot complex with intellectual disability and growth delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Fallot complex with intellectual disability and growth delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Fallot complex with intellectual disability and growth delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Fallot complex with intellectual disability and growth delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Fallot complex with intellectual disability and growth delay syndrome | Finding site | Interventricular septum structure | true | Inferred relationship | Some | 3 | |
Fallot complex with intellectual disability and growth delay syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Growth retardation | true | Inferred relationship | Some | 5 | |
Fallot complex with intellectual disability and growth delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Fallot complex with intellectual disability and growth delay syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Fallot complex with intellectual disability and growth delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Fallot complex with intellectual disability and growth delay syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
Fallot complex with intellectual disability and growth delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Fallot complex with intellectual disability and growth delay syndrome | Associated morphology | Abnormal communication | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets