783703004: White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

\Disease\Genetic disease\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3759780013 Curatolo Cilio Pessagno syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3759781012 White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3759782017 White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	Congenital malformation of corpus callosum	true	Inferred relationship	Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Finding site	Corpus callosum structure	true	Inferred relationship	Existential restriction modifier	1
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Finding site	Cerebellar white matter structure	true	Inferred relationship	Existential restriction modifier	3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Associated morphology	Maturation defect	true	Inferred relationship	Existential restriction modifier	1
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3759780013	Curatolo Cilio Pessagno syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3759781012	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3759782017	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module