1231141008: Mannosephosphate isomerase congenital disorder of glycosylation (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\Mannosephosphate isomerase congenital disorder of glycosylation (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosephosphate isomerase congenital disorder of glycosylation (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Mannosephosphate isomerase congenital disorder of glycosylation (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Mannosephosphate isomerase congenital disorder of glycosylation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5071631016 Mannosephosphate isomerase congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5071632011 Congenital disorder of glycosylation type 1b en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5071633018 Mannosephosphate isomerase congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5071634012 MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5071635013 Carbohydrate deficient glycoprotein syndrome type Ib en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5071636014 Mannose-6-phosphate isomerase congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5071637017 A form of congenital disorder of N-linked glycosylation, characterised by cyclic vomiting, profound hypoglycaemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5071638010 A form of congenital disorder of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13662151000172111 congenitaal defect in glycosylering door deficiëntie van mannose-6-fosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13662161000172113 congenitaal defect in glycosylering door fosfomannose-isomerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13662171000172116 congenitaal defect in glycosylering door fosfohexo-isomerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13662181000172118 congenitaal defect in glycosylering type Ib nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14259841000172116 MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	Due to	Deficiency of mannose-6-phosphate isomerase	true	Inferred relationship	Some	2
Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5071631016	Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5071632011	Congenital disorder of glycosylation type 1b	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5071633018	Mannosephosphate isomerase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5071634012	MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5071635013	Carbohydrate deficient glycoprotein syndrome type Ib	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5071636014	Mannose-6-phosphate isomerase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5071637017	A form of congenital disorder of N-linked glycosylation, characterised by cyclic vomiting, profound hypoglycaemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5071638010	A form of congenital disorder of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13662151000172111	congenitaal defect in glycosylering door deficiëntie van mannose-6-fosfaatisomerase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13662161000172113	congenitaal defect in glycosylering door fosfomannose-isomerasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13662171000172116	congenitaal defect in glycosylering door fosfohexo-isomerasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13662181000172118	congenitaal defect in glycosylering type Ib	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14259841000172116	MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)