718719001: syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (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\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly type 3 familial fetal akinesia sequence 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\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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 microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence 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\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microlissencephaly\Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\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
12318461000146114	syndroom van lissencefalie type 3 met familiale foetale akinesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12318471000146115	syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12318481000146118	syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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

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