414380008: Hawkinsinuria (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hawkinsinuria (disorder)

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)\Hawkinsinuria (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Hawkinsinuria (disorder)
\Metabolic disease\Enzymopathy\4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)\Hawkinsinuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2530084012 Hawkinsinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2533521010 Hawkinsinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5314320017 HPD-gene related hawkinsinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hawkinsinuria (disorder)	Is a	4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	true	Inferred relationship	Some
Hawkinsinuria (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hawkinsinuria (disorder)	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets