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277893002: Carbohydrate-deficient glycoprotein syndrome type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
414626014 Carbohydrate-deficient glycoprotein syndrome type I en Synonym Active Only initial character case insensitive SNOMED CT core module
414627017 CDG - Carbohydrate-deficient glycoprotein syndrome type I en Synonym Active Entire term case sensitive SNOMED CT core module
670983015 Carbohydrate-deficient glycoprotein syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate-deficient glycoprotein syndrome type I Is a Carbohydrate-deficient glycoprotein syndrome true Inferred relationship Existential restriction modifier
Carbohydrate-deficient glycoprotein syndrome type I Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Carbohydrate-deficient glycoprotein syndrome type I Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital disorder of glycosylation type Ia Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1c Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
ALG12-congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 1m Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Asparagine-linked glycosylation 1 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Asparagine-linked glycosylation 3 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Asparagine-linked glycosylation 8 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Asparagine-linked glycosylation 9 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 1o Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1f Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1e Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1j Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1r Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1n Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1p Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1s Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1w Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1x Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1y Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1q Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Phosphoglucomutase 1-related congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1i Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Mannosephosphate isomerase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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