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4702003: Inherited disorder of folate metabolism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
8849015 Inherited disorder of folate metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784433018 Inherited disorder of folate metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of folate metabolism Is a Disorder of organic acid metabolism true Inferred relationship Some
Inherited disorder of folate metabolism Is a Inborn error of metabolism true Inferred relationship Some
Inherited disorder of folate metabolism Occurrence Congenital true Inferred relationship Some 1
Inherited disorder of folate metabolism Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Methylene THF reductase deficiency AND homocystinuria Is a True Inherited disorder of folate metabolism Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency Is a True Inherited disorder of folate metabolism Inferred relationship Some
Glutamate formiminotransferase deficiency Is a True Inherited disorder of folate metabolism Inferred relationship Some
Congenital defect of folate absorption (disorder) Is a True Inherited disorder of folate metabolism Inferred relationship Some
Tetrahydrofolate methyltransferase deficiency Is a True Inherited disorder of folate metabolism Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Inherited disorder of folate metabolism Inferred relationship Some

This concept is not in any reference sets

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