139821000119102: heterozygote mutatie van methyleentetrahydrofolaatreductase-gen (aandoening)

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

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

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

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

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

6498291000146114 heterozygote mutatie van methyleentetrahydrofolaatreductase-gen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6498301000146113 heterozygote MTHFR-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6498311000146110 heterozygote mutatie van methyleentetrahydrofolaatreductase-gen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	1
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set