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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Lymphatic malformation | false | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | structure d'un rein | 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) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | Digit structure | true | Inferred relationship | Some | 3 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | vaisseau lymphatique | true | Inferred relationship | Some | 2 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Lymphangiectasis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Supernumerary structure | true | Inferred relationship | Some | 3 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Congenital lymphangiectasia | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Disorder of lymphatic vessel (disorder) | false | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des reins | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | lésion de tissu mou | false | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Mullerian remnant | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of lymphatic system (disorder) | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | polydactylie | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Lymphangiectasis (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | vaisseau lymphatique | false | Inferred relationship | Some | 4 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Supernumerary structure | false | Inferred relationship | Some | 5 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | false | Inferred relationship | Some | 5 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | false | Inferred relationship | Some | 6 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Persistent embryonic structure | false | Inferred relationship | Some | 7 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of paramesonephric duct | false | Inferred relationship | Some | 7 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | morphologie associée (attribut) | Persistent embryonic structure | true | Inferred relationship | Some | 4 | |
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of paramesonephric duct | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets