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

SNOMED CT Concept\Clinical finding\...

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

\Central nervous system finding\Finding of brain\Encephalopathy\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\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\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\Encephalopathy\Leukoencephalopathy\Congenital anomaly 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 anomaly 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\Encephalopathy\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\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

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

\Finding of brain\Encephalopathy\...

\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 anomaly 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 anomaly 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 anomaly 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 anomaly 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\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly 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\Intellectual ability - finding\Intellectual disability\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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\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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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 anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly 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 anomaly 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\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\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 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability 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\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759780013 Curatolo Cilio Pessagno syndrome en Synonym Active Case sensitive SNOMED CT core

3759781012 White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

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

3759783010 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3759780013	Curatolo Cilio Pessagno syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3759781012	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3759782017	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759783010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core