717185008: Deficiency of leukotriene C4 synthase (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Deficiency of leukotriene C4 synthase
• \Head finding (finding)\Disorder of head (disorder)\Deficiency of leukotriene C4 synthase
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Deficiency of leukotriene C4 synthase
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of head (disorder)\Deficiency of leukotriene C4 synthase
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of leukotriene C4 synthase
• \Disease\Metabolic disease\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308624018	Deficiency of leukotriene C4 synthase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308625017	Deficiency of leukotriene C4 synthase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308626016	Leukotriene C4 synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308627013	Hypotonia with failure to thrive and microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401501010	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401502015	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterised clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308624018	Deficiency of leukotriene C4 synthase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308625017	Deficiency of leukotriene C4 synthase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308626016	Leukotriene C4 synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308627013	Hypotonia with failure to thrive and microcephaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308627013	Hypotonia with failure to thrive and microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308628015	An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401501010	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401502015	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterised clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430341001000119	Hypotonie - Gedeihstörungen - Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5845701000241116	syndrome d'hypotonie, de retard staturopondéral et de microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5845711000241119	déficit en leucotriène-C4 synthétase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5845701000241116	syndrome d'hypotonie, de retard staturopondéral et de microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5845711000241119	déficit en leucotriène-C4 synthétase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430341001000119	Hypotonie - Gedeihstörungen - Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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