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698870008: 2-hydroxyglutaric aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2981747011 2-hydroxyglutaric aciduria en Synonym Active Entire term case insensitive SNOMED CT core module
2981968018 2-hydroxyglutaric aciduria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
2-hydroxyglutaric aciduria Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a Disorder of neurometabolic regulation true Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Finding site Structure of endocrine system false Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Occurrence Congenital true Inferred relationship Existential restriction modifier 1
2-hydroxyglutaric aciduria Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier 1
2-hydroxyglutaric aciduria Occurrence Congenital true Inferred relationship Existential restriction modifier 2
2-hydroxyglutaric aciduria Finding site Structure of endocrine system true Inferred relationship Existential restriction modifier 2
2-hydroxyglutaric aciduria Is a Congenital disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
L-2-hydroxyglutaric aciduria Is a True 2-hydroxyglutaric aciduria Inferred relationship Existential restriction modifier
D-2-hydroxyglutaric aciduria Is a True 2-hydroxyglutaric aciduria Inferred relationship Existential restriction modifier
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Is a True 2-hydroxyglutaric aciduria Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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