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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
5402477012 A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402478019 A rare malformation disorder characterised by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402477012 A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402478019 A rare malformation disorder characterised by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446631001000116 Kraniosynostose - Dandy-Walker-Malformation - Hydrozephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885461000241118 syndrome de craniosynostose, malformation de Dandy-Walker et hydrocéphalie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885471000241114 syndrome de Braddock-Jones-Superneau fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885461000241118 syndrome de craniosynostose, malformation de Dandy-Walker et hydrocéphalie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885471000241114 syndrome de Braddock-Jones-Superneau fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446631001000116 Kraniosynostose - Dandy-Walker-Malformation - Hydrozephalus 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
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Dandy-Walker syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Craniosynostosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 11
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 12
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Lateral aperture of fourth ventricle false Inferred relationship Existential restriction modifier (core metadata concept) 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Foramen of Magendie false Inferred relationship Existential restriction modifier (core metadata concept) 9
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Fourth ventricle structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Congenital malrotation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Disease of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Fourth ventricle structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Finding site Infratentorial brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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