724096007: Congenital disorder of glycosylation type 1f (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5403229017 A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403230010 A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3437617018 Congenital disorder of glycosylation type 1f (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437618011 Congenital disorder of glycosylation type 1f en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437619015 Carbohydrate deficient glycoprotein syndrome type If en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437620014 Mannose-P-dolichol utilization defect 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437621013 MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3437622018 Mannose-P-dolichol utilisation defect 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437623011 MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5905331000241110 syndrome des glycoprotéines déficientes en hydrates de carbone de type If fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5905341000241117 anomalie congénitale de la glycosylation de type 1f fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5905351000241119 CDG1F (congenital disorder of glycosylation, type 1f) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3452371001000112 MPDU1-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)