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

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

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

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\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\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Finding of head region\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\affection de la tête\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)
\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\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)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)

\Disease\Genetic disease\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\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\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	agénésie du corps calleux (trouble)	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	interprète (attribut)	Head circumference	true	Inferred relationship	Some	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	localisation d'une constatation (attribut)	structure de la tête	true	Inferred relationship	Some	3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	morphologie associée (attribut)	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)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	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)	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	localisation d'une constatation (attribut)	Entire corpus callosum	true	Inferred relationship	Some	5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	morphologie associée (attribut)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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