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Terminology chevron_right Concepts chevron_right 271847005

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Component

271847005

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary hypertyrosinemia (disorder)

Shortest Term

Hereditary tyrosinemia

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Hereditary hypertyrosinemia (disorder)

SCTID: 271847005, Primitive, Active

271847005|Hereditary hypertyrosinemia (disorder)|

en Hereditary tyrosinaemia
en Hereditary tyrosinemia
en Hereditary hypertyrosinaemia
en Hereditary hypertyrosinemia
en Hereditary hypertyrosinemia (disorder)
en Tyrosinaemia-tyrosiluria hereditary syndrome
en Tyrosinemia-tyrosiluria hereditary syndrome

Expression

271847005 |Hereditary hypertyrosinemia (disorder)|
 <<< 56595005 |Hypertyrosinemia (disorder)| + 
1821000146108 |Hereditary metabolic disease (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4554512018 - Hereditary tyrosinaemia (en) View
4554512018	en	Synonym (core metadata concept)	Hereditary tyrosinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4554513011 - Hereditary tyrosinemia (en) View
4554513011	en	Synonym (core metadata concept)	Hereditary tyrosinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
406834014 - Hereditary hypertyrosinaemia (en) View
406834014	en	Synonym (core metadata concept)	Hereditary hypertyrosinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
406833015 - Hereditary hypertyrosinemia (en) View
406833015	en	Synonym (core metadata concept)	Hereditary hypertyrosinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
664301017 - Hereditary hypertyrosinemia (disorder) (en) View
664301017	en	Fully specified name (core metadata concept)	Hereditary hypertyrosinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
406832013 - Tyrosinaemia-tyrosiluria hereditary syndrome (en) View
406832013	en	Synonym (core metadata concept)	Tyrosinaemia-tyrosiluria hereditary syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
406835010 - Tyrosinemia-tyrosiluria hereditary syndrome (en) View
406835010	en	Synonym (core metadata concept)	Tyrosinemia-tyrosiluria hereditary syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12073527025) - 271847005 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15281264021) - 271847005 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (596996029) - 271847005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (596995025) - 271847005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (90466026) - 271847005 -> 56595005 (116680003) View
116680003 \|Is a (attribute)\|	56595005 \|Hypertyrosinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1821000146108 View
1821000146108	Hereditary metabolic disease (disorder)	Hereditary metabolic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
56595005 View
56595005	Hypertyrosinemia (disorder)	Hypertyrosinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
410056006 View
410056006	Tyrosinemia type i (disorder)	Tyrosinemia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4887000 View
4887000	Hypertyrosinemia, richner-hanhart type (disorder)	Richner syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52452006 View
52452006	Fumarylacetoacetase deficiency, chronic type (disorder)	Chronic tyrosinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (9485ace8-578f-5d40-aeca-f89413ea3bc6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.2	TRUE	ALWAYS E70.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 271847005

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