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720813007: Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)


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
3320107018 Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320108011 Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322152014 Braddock Jones Superneau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322153016 A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. 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
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure false Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Disorder of skull (disorder) true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull false Inferred relationship Some 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 7

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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