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 |
5402744014 | A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402745010 | A rare genetic disease characterised by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)