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725079003: Congenital disorder of glycosylation type 1j (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
3438312019 Congenital disorder of glycosylation type 1j (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3438313012 Congenital disorder of glycosylation type 1j en Synonym Active Only initial character case insensitive SNOMED CT core module
3438314018 Carbohydrate deficient glycoprotein syndrome type Ij en Synonym Active Only initial character case insensitive SNOMED CT core module
3438315017 Congenital disorder of glycosylation type Ij en Synonym Active Only initial character case insensitive SNOMED CT core module
3438316016 Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3438317013 DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase 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 1j Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1j Is a Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1j 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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