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 |
| 3330003010 | Mardini Nyhan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330005015 | Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330006019 | Lung agenesis with heart defect and thumb anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330004016 | A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483181000241111 | agénésie pulmonaire avec anomalie cardiaque et syndrome d'anomalie du pouce | 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 |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Congenital absence of lung | false | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Congenital malformation of thumb (disorder) | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Lung structure | false | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Thumb structure | false | Inferred relationship | Some | 5 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Thumb structure | true | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 4 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 1 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Associated morphology | Aplasia | true | Inferred relationship | Some | 1 | |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Congenital aplasia of lung (disorder) | true | Inferred relationship | Some | ||
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR