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791000124107: 2-methyl-3-hydroxybutyric aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3516733016 2-methyl-3-hydroxybutyric aciduria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3516734010 2-methyl-3-hydroxybutyric aciduria en Synonym Active Entire term case insensitive SNOMED CT core module
3516735011 HSD10 disease en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
2-methyl-3-hydroxybutyric aciduria Is a Disorder of the central nervous system true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Congenital disease false Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Deficiency of dehydrogenase true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Disorder of isoleucine metabolism true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Occurrence Congenital false Inferred relationship Existential restriction modifier 1
2-methyl-3-hydroxybutyric aciduria Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 1
2-methyl-3-hydroxybutyric aciduria Is a X-linked dominant hereditary disease true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Chronic nervous system disorder true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Clinical course Progressive true Inferred relationship Existential restriction modifier 1
2-methyl-3-hydroxybutyric aciduria Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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