47719001: Hypervalinemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Hypervalinemia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypervalinemia

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hypervalinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of valine metabolism (disorder)\Hypervalinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypervalinemia
\Metabolic disease\Enzymopathy\Hypervalinemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypervalinemia

\Congenital disease (disorder)\Inborn error of metabolism\Hypervalinemia

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

79521012 Hypervalinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

79522017 Valine transaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

79523010 Valinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

494905018 Valinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

494906017 Hypervalinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

785208014 Hypervalinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

791971000052117 hypervalinemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypervalinemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypervalinemia	Is a	Enzymopathy	true	Inferred relationship	Some
Hypervalinemia	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Hypervalinemia	Is a	Aminoacidemia	true	Inferred relationship	Some
Hypervalinemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypervalinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hypervalinemia	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Hypervalinemia	Is a	Disorder of valine metabolism (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets