717185008: Deficiency of leukotriene C4 synthase (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Deficiency of leukotriene C4 synthase
• \Disorder of head\Deficiency of leukotriene C4 synthase
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Deficiency of leukotriene C4 synthase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\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\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase
• \Disease\Disorder of head\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, Primitive. 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	Initial character case insensitive	SNOMED CT core
3308625017	Deficiency of leukotriene C4 synthase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308626016	Leukotriene C4 synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308627013	Hypotonia with failure to thrive and microcephaly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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