237934001: Transcobalamin II deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transcobalamin II deficiency (disorder)

\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Transcobalamin II deficiency (disorder)

\Nutritional disorder\Vitamin disease (disorder)\Transcobalamin II deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356606013 TCN2 - Transcobalamin II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356607016 Transcobalamin II deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626738018 Transcobalamin II deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356606013 TCN2 - Transcobalamin II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356607016 Transcobalamin II deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626738018 Transcobalamin II deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3391911001000110 Transcobalamin II-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6963181000241114 déficit en transcobalamine II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6963181000241114 déficit en transcobalamine II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3391911001000110 Transcobalamin II-Mangel de 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
Transcobalamin II deficiency (disorder)	Is a	Vitamin disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Transcobalamin II deficiency (disorder)	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Transcobalamin II deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Transcobalamin II deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Transcobalamin II deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Due to	True	Transcobalamin II deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Reference Sets

Description inactivation indicator reference set