717185008: leukotrieen C4-synthasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Deficiency of leukotriene C4 synthase (disorder)
\Head finding (finding)\Disorder of head (disorder)\Deficiency of leukotriene C4 synthase (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Deficiency of leukotriene C4 synthase (disorder)

\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 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Disorder of body system\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\Disorder of head (disorder)\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of leukotriene C4 synthase (disorder)
\Disease\Metabolic disease\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of leukotriene C4 synthase (disorder)	Is a	Disorder of neurometabolic regulation	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Deficiency of leukotriene C4 synthase (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Deficiency of leukotriene C4 synthase (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Head structure	true	Inferred relationship	Some	3
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	4
Deficiency of leukotriene C4 synthase (disorder)	Is a	Microcephaly (finding)	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Is a	Disorder of head (disorder)	true	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
Deficiency of leukotriene C4 synthase (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
8721331000146118	leukotrieen C4-synthasedeficiëntie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721341000146114	leukotrieen C4-synthasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721351000146112	deficiëntie van leukotrieen C4-synthase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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