719139003: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Finding of head region\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3315143011 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome en Synonym Active Case sensitive SNOMED CT core

3315144017 Pettigrew syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

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	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Basal ganglion structure	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital malrotation	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Fourth ventricle structure	false	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Fourth ventricle structure	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Infratentorial brain structure	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	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	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Is a	Dandy-Walker syndrome	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	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	Is a	Disorder of basal ganglia	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	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	Finding site	Basal ganglion structure	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	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	Finding site	Foramen of Magendie	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Infratentorial brain structure	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Infratentorial brain structure	false	Inferred relationship	Some	9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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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	Case sensitive	SNOMED CT core
3315143011	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3315144017	Pettigrew syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core