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459063003: Congenital disorder of glycosylation type Ia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2922250016 Congenital disorder of glycosylation type Ia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2922256010 Congenital disorder of glycosylation type Ia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disorder of glycosylation type Ia est un(e) (attribut) Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Some
Congenital disorder of glycosylation type Ia survenue (attribut) congénital true Inferred relationship Some 2
Congenital disorder of glycosylation type Ia est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital disorder of glycosylation type Ia Due to Deficiency of phosphomannomutase 2 (disorder) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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