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Terminology chevron_right Concepts chevron_right 410056006

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Component

410056006

The component that hold information about this concept.

Fully Specified Name (FSN)

Tyrosinemia type i (disorder)

Shortest Term

Tyrosinemia type 1

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

Tyrosinemia type i (disorder)

SCTID: 410056006, Primitive, Active

410056006|Tyrosinemia type i (disorder)|

en Fah-gene related tyrosinaemia type 1
en Fah-gene related tyrosinemia type 1
en Hepatorenal tyrosinaemia
en Hepatorenal tyrosinemia
en Tyrosinaemia type 1
en Tyrosinemia type 1
en Tyrosinaemia type i
en Tyrosinemia type i
en Tyrosinemia type i (disorder)

Expression

410056006 |Tyrosinemia type i (disorder)|
 <<< 410053003 |Clinical manifestation of enzyme deficiency (disorder)| + 
271847005 |Hereditary hypertyrosinemia (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 42752001 |Due to (attribute)| = 124536006 |Deficiency of fumarylacetoacetase (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5310042019 - FAH-gene related tyrosinaemia type 1 (en) View
5310042019	en	Synonym (core metadata concept)	FAH-gene related tyrosinaemia type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5310040010 - FAH-gene related tyrosinemia type 1 (en) View
5310040010	en	Synonym (core metadata concept)	FAH-gene related tyrosinemia type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5310043012 - Hepatorenal tyrosinaemia (en) View
5310043012	en	Synonym (core metadata concept)	Hepatorenal tyrosinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5310038017 - Hepatorenal tyrosinemia (en) View
5310038017	en	Synonym (core metadata concept)	Hepatorenal tyrosinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5310039013 - Tyrosinaemia type 1 (en) View
5310039013	en	Synonym (core metadata concept)	Tyrosinaemia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5310041014 - Tyrosinemia type 1 (en) View
5310041014	en	Synonym (core metadata concept)	Tyrosinemia type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2469188016 - Tyrosinaemia type I (en) View
2469188016	en	Synonym (core metadata concept)	Tyrosinaemia type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2469662018 - Tyrosinemia type I (en) View
2469662018	en	Synonym (core metadata concept)	Tyrosinemia type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2465507011 - Tyrosinemia type I (disorder) (en) View
2465507011	en	Fully specified name (core metadata concept)	Tyrosinemia type I (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15907502023) - 410056006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2589236028) - 410056006 -> 124536006 (42752001) View
42752001 \|Due to (attribute)\|	124536006 \|Deficiency of fumarylacetoacetase (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799933023) - 410056006 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2589237021) - 410056006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2542651028) - 410056006 -> 410053003 (116680003) View
116680003 \|Is a (attribute)\|	410053003 \|Clinical manifestation of enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2542652024) - 410056006 -> 271847005 (116680003) View
116680003 \|Is a (attribute)\|	271847005 \|Hereditary hypertyrosinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
271847005 View
271847005	Hereditary hypertyrosinemia (disorder)	Hereditary tyrosinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
410053003 View
410053003	Clinical manifestation of enzyme deficiency (disorder)	Clinical manifestation of enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (b99f7e0a-4d8d-536c-b830-387cb746aeb0) 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)\|

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