FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

725587007: Carbohydrate deficient glycoprotein syndrome type 2d (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3444098015 Carbohydrate deficient glycoprotein syndrome type 2d (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3444099011 Carbohydrate deficient glycoprotein syndrome type 2d en Synonym Active Entire term case insensitive SNOMED CT core module
3444100015 B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module
3444101016 Beta-1,4-galactosyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3444102011 Carbohydrate deficient glycoprotein syndrome type IId en Synonym Active Only initial character case insensitive SNOMED CT core module
3444103018 Congenital disorder of glycosylation type 2d en Synonym Active Entire term case insensitive SNOMED CT core module
3444104012 Congenital disorder of glycosylation type IId en Synonym Active Only initial character case insensitive SNOMED CT core module

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

Id	Description	Lang	Type	Status	Case?	Module
3444098015	Carbohydrate deficient glycoprotein syndrome type 2d (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3444099011	Carbohydrate deficient glycoprotein syndrome type 2d	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3444100015	B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3444101016	Beta-1,4-galactosyltransferase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3444102011	Carbohydrate deficient glycoprotein syndrome type IId	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3444103018	Congenital disorder of glycosylation type 2d	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3444104012	Congenital disorder of glycosylation type IId	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module