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719139003: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure 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
3315142018 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315143011 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315144017 Pettigrew syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315145016 A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3895441000052110 Pettigrews syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Disorder of basal ganglia (disorder) true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a mental retardation false Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Basal ganglion structure (body structure) false Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology kongenital anomali false Inferred relationship Some 7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology kongenital dilatation false Inferred relationship Some 10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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