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733094005: Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)


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
5403738016 A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by 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
5403739012 A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterised by 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
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
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
5403738016 A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by 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
5403739012 A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterised by 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
3428121001000113 Dandy-Walker-Malformation-postaxiale Polydaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903301000172111 MDW avec polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018881000172114 syndrome de Dandy-Walker-polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903301000172111 MDW avec polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018881000172114 syndrome de Dandy-Walker-polydactylie postaxiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428121001000113 Dandy-Walker-Malformation-postaxiale Polydaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Dandy-Walker syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Polydactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 9
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Congenital malrotation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site Infratentorial brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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