56595005: hypertyrosinemie (aandoening)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hypertyrosinemia

\Disorder of tyrosine metabolism\Hypertyrosinemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia

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

94117019 Hypertyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
94118012 Hypertyrosinemia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
94119016 Elevated tyrosine blood level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
497657013 Hypertyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795124017 Hypertyrosinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
221311000146113 hypertyrosinemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
221321000146115 hypertyrosinemie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
242441000146110 tyrosinemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertyrosinemia	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Some
Hypertyrosinemia	Is a	Aminoacidemia	true	Inferred relationship	Some
Hypertyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hypertyrosinemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary hypertyrosinemia	Is a	True	Hypertyrosinemia	Inferred relationship	Some
Hypertyrosinemia, Richner-Hanhart type (disorder)	Is a	False	Hypertyrosinemia	Inferred relationship	Some
Transient neonatal hypertyrosinemia	Is a	True	Hypertyrosinemia	Inferred relationship	Some

This concept is not in any reference sets