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410056006: Tyrosinemia type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2465507011 Tyrosinemia type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2469188016 Tyrosinaemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2469662018 Tyrosinemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5310038017 Hepatorenal tyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310039013 Tyrosinaemia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310040010 FAH-gene related tyrosinemia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5310041014 Tyrosinemia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310042019 FAH-gene related tyrosinaemia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5310043012 Hepatorenal tyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2465507011 Tyrosinemia type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2469188016 Tyrosinaemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2469662018 Tyrosinemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5310038017 Hepatorenal tyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310039013 Tyrosinaemia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310040010 FAH-gene related tyrosinemia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5310041014 Tyrosinemia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5310042019 FAH-gene related tyrosinaemia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5310043012 Hepatorenal tyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3381851001000116 Tyrosinämie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923251000172112 déficit en FAH (fumarylacetoacetate hydrolase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976931000172117 tyrosinémie type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923251000172112 déficit en FAH (fumarylacetoacetate hydrolase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976931000172117 tyrosinémie type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381851001000116 Tyrosinämie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tyrosinaemia type I Is a Clinical manifestation of enzyme deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinaemia type I Is a Hereditary hypertyrosinemia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinaemia type I Due to Deficiency of fumarylacetoacetase true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinaemia type I Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinaemia type I Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinaemia type I Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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