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 |
| 3330027012 | Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3330028019 | Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3330029010 | This syndrome has characteristics of prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Disorder of lymphatic vessel (disorder) | false | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Lesion of soft tissue (disorder) | false | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Mullerian remnant | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Hereditary disorder of lymphatic system (disorder) | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Lymphangiectasis | false | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Structure of lymphatic vessel | false | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 5 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 5 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 6 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Persistent embryonic structure | false | Inferred relationship | Some | 7 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Structure of paramesonephric duct | false | Inferred relationship | Some | 7 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Persistent embryonic structure | true | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Structure of paramesonephric duct | true | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Lymphatic malformation | false | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 3 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Finding site | Structure of lymphatic vessel | true | Inferred relationship | Some | 2 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Lymphangiectasis | true | Inferred relationship | Some | 2 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 3 | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | Is a | Congenital lymphangiectasia | true | Inferred relationship | Some | ||
| Persistent Mullerian derivative with lymphangiectasia and polydactyly 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