139811000119109: Homozygous 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)\Homozygous methylenetetrahydrofolate reductase mutation

\Disorder of foetus and/or newborn\Congenital disease\Homozygous methylenetetrahydrofolate reductase mutation

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3010526019 Homozygous methylenetetrahydrofolate reductase mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3011447010 Homozygous methylenetetrahydrofolate reductase mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3010526019 Homozygous methylenetetrahydrofolate reductase mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3010526019 Homozygous methylenetetrahydrofolate reductase mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3011447010 Homozygous methylenetetrahydrofolate reductase mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3011447010 Homozygous methylenetetrahydrofolate reductase mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6298691000241114 mutation homozygote du gène MTHFR (méthylènetétrahydrofolate réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298701000241114 mutation homozygote du gène de la méthylènetétrahydrofolate réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298711000241111 mutation homozygote de la méthylènetétrahydrofolate réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298721000241116 mutation homozygote de la MTHFR (méthylènetétrahydrofolate réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298691000241114 mutation homozygote du gène MTHFR (méthylènetétrahydrofolate réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298701000241114 mutation homozygote du gène de la méthylènetétrahydrofolate réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298711000241111 mutation homozygote de la méthylènetétrahydrofolate réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6298721000241116 mutation homozygote de la MTHFR (méthylènetétrahydrofolate réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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