271847005: Hereditary hypertyrosinemia (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypertyrosinemia\Hereditary hypertyrosinemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

406832013 Tyrosinaemia-tyrosiluria hereditary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406833015 Hereditary hypertyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406834014 Hereditary hypertyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406835010 Tyrosinemia-tyrosiluria hereditary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

664301017 Hereditary hypertyrosinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4554512018 Hereditary tyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4554513011 Hereditary tyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5113661000241112 hypertyrosinémie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypertyrosinemia	Is a	Hypertyrosinemia	true	Inferred relationship	Some
Hereditary hypertyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency	Is a	False	Hereditary hypertyrosinemia	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Hypertyrosinemia, Richner-Hanhart type (disorder)	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some

This concept is not in any reference sets