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725078006: Congenital disorder of glycosylation type 1e (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
3438287019 Congenital disorder of glycosylation type 1e (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3438288012 Congenital disorder of glycosylation type 1e en Synonym Active Only initial character case insensitive SNOMED CT core module
3438289016 Carbohydrate deficient glycoprotein syndrome type Ie en Synonym Active Only initial character case insensitive SNOMED CT core module
3438290013 Dolichol-phosphate-mannose synthase 1 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3438291012 DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit 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 1e Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1e Is a Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1e 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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