413356003: 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)

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

\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)

\Enzymopathy\4-Hydroxyphenylpyruvate dioxygenase deficiency (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

2530082011 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2533518013 4-Hydroxyphenylpyruvate dioxygenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2537080017 4-Hydroxyphenylpyruvate hydroxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2530082011 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2533518013 4-Hydroxyphenylpyruvate dioxygenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2537080017 4-Hydroxyphenylpyruvate hydroxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5277661000241113 déficit en 4-hydroxyphénylpyruvate dioxygénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5277661000241113 déficit en 4-hydroxyphénylpyruvate dioxygénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Is a	Disorder of tyrosine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tyrosinemia type III (disorder)	Is a	True	4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hawkinsinuria (disorder)	Is a	True	4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets