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 |
| 3316147015 | Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316148013 | Microcephalus with cardiac defect and lung malsegmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316149017 | Microcephaly with cardiac defect and lung malsegmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316150017 | Ellis Yale Winter syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402077015 | Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402078013 | Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterised by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Congenital anomaly of lung | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 5 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Lung structure | false | Inferred relationship | Some | 4 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 2 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR