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724142005: Carbohydrate deficient glycoprotein syndrome type 2a (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3431062013 Carbohydrate deficient glycoprotein syndrome type 2a (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3431063015 Carbohydrate deficient glycoprotein syndrome type 2a en Synonym Active Entire term case insensitive SNOMED CT core module
3431064014 Carbohydrate deficient glycoprotein syndrome type IIa en Synonym Active Only initial character case insensitive SNOMED CT core module
3431065010 Congenital disorder of glycosylation type 2a en Synonym Active Entire term case insensitive SNOMED CT core module
3431066011 Congenital disorder of glycosylation type IIa en Synonym Active Only initial character case insensitive SNOMED CT core module
3431067019 MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate deficient glycoprotein syndrome type 2a Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2a Is a Carbohydrate-deficient glycoprotein syndrome type II true Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2a Occurrence Congenital true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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