773394007: pachygyrie frontotemporale autosomique récessive (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Finding of head region\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (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\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria (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)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723362011	Autosomal recessive frontotemporal pachygyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723363018	Autosomal recessive frontotemporal pachygyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771291000241118	pachygyrie frontotemporale autosomique récessive (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
969371000172116	pachygyrie frontotemporale autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723364012	A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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