890436003: Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4029834017	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	en	Synonym	Active	Case insensitive	SNOMED CT core
4029835016	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start