237934001: Transcobalamin II deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transcobalamin II deficiency

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Transcobalamin II deficiency

\Nutritional disorder\Vitamin disease\Transcobalamin II deficiency

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transcobalamin II deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Transcobalamin II deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Transcobalamin II deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Transcobalamin II deficiency	est un(e) (attribut)	Vitamin disease	true	Inferred relationship	Some
Transcobalamin II deficiency	est un(e) (attribut)	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Due to	True	Transcobalamin II deficiency	Inferred relationship	Some	4

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Description inactivation indicator reference set