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

SNOMED CT Concept\Clinical finding\...

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

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation 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\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Leukoencephalopathy\Congenital malformation 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 malformation 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\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation 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\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Leukoencephalopathy\Congenital malformation 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\Disorder of brain\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation 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 malformation 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 malformation 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 malformation 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\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disorder of head\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Leukoencephalopathy\Congenital malformation 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\Finding of intellectual ability\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of nervous system\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\Disorder of nervous system\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\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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\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\Disorder of nervous system\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\Disorder of nervous system\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\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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism 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\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\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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation 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 malformation 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\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Disorder of head\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\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 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 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\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\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 malformation\Congenital anomaly of head\Congenital macrocephaly\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4970620017 7q36.3 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4970621018 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4970622013 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Existential restriction modifier	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Associated morphology	Agenesis	true	Inferred relationship	Existential restriction modifier	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4970620017	7q36.3 microduplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4970621018	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4970622013	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module