1208720000: Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

\Disease\Genetic disease\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4970620017 7q36.3 microduplication syndrome en Synonym Active Case insensitive SNOMED CT core

4970621018 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4970622013 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome en Synonym Active Case insensitive SNOMED CT core

4970623015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Head circumference	true	Inferred relationship	Some	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Structure of head	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4970620017	7q36.3 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4970621018	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4970622013	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4970623015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.	en	Definition	Active	Case sensitive	SNOMED CT core