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 |
| 6114511000146111 | syndroom van Ellis-Yale-Winter | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6850481000146113 | syndroom van microcefalie, hartdefect en longmalsegmentatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6850491000146110 | syndroom van microcefalie, hartdefect en longmalsegmentatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3316151018 | A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. | 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 | microcefalie | 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 | gebrekkige ontwikkeling (afwijkende morfologie) | 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 | gebrekkige ontwikkeling (afwijkende morfologie) | 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 | congenitale kleinheid | 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 | congenitale kleinheid | 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 |
This concept is not in any reference sets
FHIR