1231141008: Mannosephosphate isomerase congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Mannosephosphate isomerase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosephosphate isomerase congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Mannosephosphate isomerase congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Mannosephosphate isomerase congenital disorder of glycosylation

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
5071632011	Congenital disorder of glycosylation type 1b	en	Synonym	Active	Case insensitive	SNOMED CT core
5071633018	Mannosephosphate isomerase congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
5071634012	MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
5071635013	Carbohydrate deficient glycoprotein syndrome type Ib	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5071636014	Mannose-6-phosphate isomerase congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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