Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3330009014 | Lymphedema, atrial septal defect, facial changes syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3330010016 | Lymphedema, atrial septal defect, facial changes syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3330011017 | Lymphoedema, atrial septal defect, facial changes syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3330012012 | Irons Bianchi syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3330013019 | This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
3330014013 | This syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Congenital anomaly of lower limb | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Interatrial septum structure | true | Inferred relationship | Some | 1 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Congenital septal defect | true | Inferred relationship | Some | 1 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Congenital septal defect of heart | false | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Hereditary lymphoedema | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Lymphoedema of lower limb | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Congenital abnormality of atrial septum | false | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Congenital septal defect | false | Inferred relationship | Some | 4 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Interatrial septum structure | false | Inferred relationship | Some | 4 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Lymphatic oedema | false | Inferred relationship | Some | 5 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Structure of lower limb | false | Inferred relationship | Some | 5 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Associated morphology | Lymphatic oedema | true | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Finding site | Structure of lower limb | true | Inferred relationship | Some | 3 | |
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Congenital abnormality of cardiac connection | true | Inferred relationship | Some | ||
Lymphoedema, atrial septal defect, facial changes syndrome | Is a | Congenital atrial septal defect | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set