718719001: syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale (trouble)

• 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (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)\anomalie congénitale de l'encéphale\...
• \Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence syndrome (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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313323010	Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313324016	Lissencephaly type 3 familial fetal akinesia sequence syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313329014	Lissencephaly type 3 familial foetal akinesia sequence syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752521000241113	syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
887031000172116	syndrome de lissencéphalie type 3-séquence d'akinésie foetale familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3313330016	This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start