40751003: Persistent hyperphenylalaninemia AND tyrosinemia (disorder)

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:

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

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

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