40751003: persisterende hyperfenylalaninemie en tyrosinemie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Persistent hyperphenylalaninemia AND tyrosinemia	Is a	Persistent hyperphenylalaninemia	true	Inferred relationship	Some
Persistent hyperphenylalaninemia AND tyrosinemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Persistent hyperphenylalaninemia AND tyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Persistent hyperphenylalaninemia AND tyrosinemia	Severity	Severe	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
67972016	Persistent hyperphenylalaninemia AND tyrosinemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
67973014	Persistent hyperphenylalaninemia and tyrosinemia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
67974015	Hyperphenylalaninemia, type VI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492764013	Hyperphenylalaninaemia, type VI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492765014	Persistent hyperphenylalaninaemia AND tyrosinaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777453017	Persistent hyperphenylalaninemia AND tyrosinemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
230081000146113	persisterende hyperfenylalaninemie en tyrosinemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
230091000146110	persisterende hyperfenylalaninemie en tyrosinemie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)