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733083006: Congenital disorder of glycosylation type 1r (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
3498696010 Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation en Synonym Active Entire term case insensitive SNOMED CT core module
3498697018 Congenital disorder of glycosylation type Ir en Synonym Active Only initial character case insensitive SNOMED CT core module
3498698011 DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module
3498699015 Congenital disorder of glycosylation type 1r (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3498700019 Congenital disorder of glycosylation type 1r en Synonym Active Only initial character case insensitive SNOMED CT core module
3498701015 Carbohydrate deficient glycoprotein syndrome type Ir en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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