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\Disorder of nervous system\Hereditary disorder of nervous system\Deficiency of leukotriene C4 synthase
\Disease\Disorder of body system\Disorder of nervous system\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

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 SNOMED CT core module

3308625017 Deficiency of leukotriene C4 synthase en Synonym Active Only initial character case insensitive SNOMED CT core module

3308626016 Leukotriene C4 synthase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3308627013 Hypotonia with failure to thrive and microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3308624018	Deficiency of leukotriene C4 synthase (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3308625017	Deficiency of leukotriene C4 synthase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3308626016	Leukotriene C4 synthase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3308627013	Hypotonia with failure to thrive and microcephaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module