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139821000119102: Heterozygous methylenetetrahydrofolate reductase mutation (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Heterozygous methylenetetrahydrofolate reductase mutation (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Heterozygous methylenetetrahydrofolate reductase mutation (disorder)

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Heterozygous methylenetetrahydrofolate reductase mutation (disorder)
\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Heterozygous methylenetetrahydrofolate reductase mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
3013596014	Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3013607018	Heterozygous methylenetetrahydrofolate reductase mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3013596014	Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3013596014	Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3013607018	Heterozygous methylenetetrahydrofolate reductase mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3013607018	Heterozygous methylenetetrahydrofolate reductase mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6068181000241110	mutation hétérozygote de la méthylènetétrahydrofolate réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6068181000241110	mutation hétérozygote de la méthylènetétrahydrofolate réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module