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724096007: Congenital disorder of glycosylation type 1f (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
3437617018 Congenital disorder of glycosylation type 1f (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3437618011 Congenital disorder of glycosylation type 1f en Synonym Active Only initial character case insensitive SNOMED CT core module
3437619015 Carbohydrate deficient glycoprotein syndrome type If en Synonym Active Only initial character case insensitive SNOMED CT core module
3437620014 Mannose-P-dolichol utilization defect 1 en Synonym Active Only initial character case insensitive SNOMED CT core module
3437621013 MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module
3437622018 Mannose-P-dolichol utilisation defect 1 en Synonym Active Only initial character case insensitive SNOMED CT core module
3437623011 MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - 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
Congenital disorder of glycosylation type 1f Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1f Is a Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1f 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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