Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3724874010 | Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724875011 | Porencephaly, microcephaly, bilateral congenital cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724876012 | A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724877015 | A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 974441000172112 | syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1010951000172112 | porencefalie, microcefalie, bilateraal congenitaal cataract-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Structure of lens of left eye | false | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Congenital cataract of bilateral eyes (disorder) | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Structure of lens of right eye | false | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Congenital porencephaly | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Structure of lens of left eye | true | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Finding site | Structure of lens of right eye | true | Inferred relationship | Some | 2 | |
| Porencephaly, microcephaly, bilateral congenital cataract 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