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1231141008: Mannosephosphate isomerase congenital disorder of glycosylation (disorder)


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

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 SNOMED CT core module
5071632011 Congenital disorder of glycosylation type 1b en Synonym Active Entire term case insensitive SNOMED CT core module
5071633018 Mannosephosphate isomerase congenital disorder of glycosylation en Synonym Active Entire term case insensitive SNOMED CT core module
5071634012 MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module
5071635013 Carbohydrate deficient glycoprotein syndrome type Ib en Synonym Active Only initial character case insensitive SNOMED CT core module
5071636014 Mannose-6-phosphate isomerase congenital disorder of glycosylation en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

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