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733094005: syndrome de Dandy-Walker-polydactylie postaxiale (trouble)


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
1018881000172114 syndrome de Dandy-Walker-polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
762941000241119 syndrome de Dandy-Walker-polydactylie postaxiale (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
903301000172111 MDW avec polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation 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
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital true Inferred relationship Some 2
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 3
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1
syndrome de Dandy-Walker-polydactylie postaxiale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital true Inferred relationship Some 1
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 1
syndrome de Dandy-Walker-polydactylie postaxiale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de Dandy-Walker-polydactylie postaxiale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital true Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital true Inferred relationship Some 3
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Fourth ventricle structure false Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 2
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 2
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 4
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) polydactylie true Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital true Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital false Inferred relationship Some 7
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 8
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 8
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 8
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 8
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Aplasia false Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 6
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 6
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 7
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 7
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 9
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) congénital false Inferred relationship Some 9
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 9
syndrome de Dandy-Walker-polydactylie postaxiale morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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