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733094005: syndroom van Dandy-Walker-malformatie met postaxiale polydactylie (aandoening)


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


0 descendants.

Expanded Value Set


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

GB English

US English

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