717185008: Deficiency of leukotriene C4 synthase (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Deficiency of leukotriene C4 synthase (disorder)
• \affection de la tête\Deficiency of leukotriene C4 synthase (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\affection d'un système corporel\Disorder 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 (disorder)
• \Disease\affection de la tête\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of leukotriene C4 synthase (disorder)
• \Disease\trouble métabolique\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase (disorder)

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
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

Expanded Value Set

This concept is not in any reference sets

Back to Start