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7573000: klassieke fenylketonurie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria
\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
\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
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria

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
Classical phenylketonuria	Is a	Enzymopathy	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Hyperphenylalaninemia	false	Inferred relationship	Some
Classical phenylketonuria	Occurrence	Congenital	true	Inferred relationship	Some	1
Classical phenylketonuria	Severity	Severe	false	Inferred relationship	Some
Classical phenylketonuria	Finding site	Body system structure	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Phenylketonuria	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Persistent hyperphenylalaninemia	Is a	True	Classical phenylketonuria	Inferred relationship	Some
Suspected phenylketonuria (situation)	Associated finding	False	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria not suspected (situation)	Associated finding	False	Classical phenylketonuria	Inferred relationship	Some	1
Suspected phenylketonuria (situation)	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria not suspected (situation)	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria screening test	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylketonuria screening	Has focus	False	Classical phenylketonuria	Inferred relationship	Some	3
Phenylketonuria diet education (procedure)	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylalanine-free diet education (procedure)	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	1
Family history of phenylketonuria	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)	Is a	True	Classical phenylketonuria	Inferred relationship	Some
Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	Is a	True	Classical phenylketonuria	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
13500018	Classical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13507015	Hyperphenylalaninemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503108019	Hyperphenylalaninaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85941000146111	klassieke fenylketonurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
923471000146111	klassieke fenylketonurie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13080001000146114	Fenylketonurie; erfelijke stofwisselingsaandoening bij jonge kinderen die hersenbeschadiging, verstandelijke achterstand en epileptische aanvallen veroorzaakt; wordt opgespoord bij pasgeborenen door bloedonderzoek via een hielprik.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)