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

SNOMED CT Concept\Clinical finding (finding)\...

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

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

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

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

\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\Finding of brain\Disorder of brain (disorder)\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\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)

\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4970620017 7q36.3 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970621018 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970622013 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13661061000172119 7q36.3-microduplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13661071000172111 syndroom van agenesie van corpus callosum, macrocefalie en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13661081000172114 syndroom van afwezigheid van corpus callosum, macrocefalie en hypertelorisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

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Id	Description	Lang	Type	Status	Case?	Module
4970620017	7q36.3 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970621018	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970622013	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13661061000172119	7q36.3-microduplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13661071000172111	syndroom van agenesie van corpus callosum, macrocefalie en hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13661081000172114	syndroom van afwezigheid van corpus callosum, macrocefalie en hypertelorisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)