Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330010016 | Lymphedema, atrial septal defect, facial changes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330011017 | Lymphoedema, atrial septal defect, facial changes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330012012 | Irons Bianchi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483201000241110 | syndrome de lymphœdème avec communication interauriculaire et dysmorphie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Congenital septal defect of heart | false | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Hereditary lymphedema | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Lymphedema of lower extremity (disorder) | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Congenital abnormality of atrial septum (disorder) | false | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | Congenital septal defect (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Interatrial septum structure | false | Inferred relationship | Some | 4 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | Lymphatic edema | false | Inferred relationship | Some | 5 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 5 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | Lymphatic edema | true | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Lower limb structure | true | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Congenital abnormality of cardiac connection | false | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Congenital atrial septal defect (disorder) | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Congenital anomaly of lower limb (disorder) | true | Inferred relationship | Some | ||
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Interatrial septum structure | true | Inferred relationship | Some | 1 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Associated morphology | Congenital septal defect (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR