Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498738015 | Dandy-Walker malformation with postaxial polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498739011 | Pierquin syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498740013 | Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6838231000146114 | syndroom van Pierquin | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
11126501000146111 | syndroom van Dandy-Walker-malformatie met postaxiale polydactylie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
11126511000146113 | syndroom van Dandy-Walker-malformatie met postaxiale polydactylie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3499973016 | A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 8 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | congenitale anomalie (afwijkende morfologie) | false | Inferred relationship | Some | 8 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 8 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 8 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Aplasia | false | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | congenitale cavitatie | false | Inferred relationship | Some | 6 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 6 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 7 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Digit structure | false | Inferred relationship | Some | 7 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 9 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 9 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | congenitale cavitatie | false | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | congenitale cavitatie | false | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Fourth ventricle structure | false | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 2 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 5 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 4 | |
Dandy-Walker malformation with postaxial polydactyly syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets