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Terminology chevron_right Concepts chevron_right 58558003

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Component

58558003

The component that hold information about this concept.

Fully Specified Name (FSN)

Hyperlysinemia (disorder)

Shortest Term

Hyperlysinemia

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

Hyperlysinemia (disorder)

SCTID: 58558003, Primitive, Active

58558003|Hyperlysinemia (disorder)|

en Alpha-aminoadipic semialdehyde deficiency
en Hyperlysinaemia
en Hyperlysinemia
en Hyperlysinemia (disorder)
en Saccharopine dehydrogenase deficiency

Expression

58558003 |Hyperlysinemia (disorder)|
 <<< 237929000 |Disorder of lysine and hydroxylysine metabolism (disorder)| + 
46556004 |Aminoacidemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1231846017 - Alpha-aminoadipic semialdehyde deficiency (en) View
1231846017	en	Synonym (core metadata concept)	Alpha-aminoadipic semialdehyde deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
498194017 - Hyperlysinaemia (en) View
498194017	en	Synonym (core metadata concept)	Hyperlysinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
97309013 - Hyperlysinemia (en) View
97309013	en	Synonym (core metadata concept)	Hyperlysinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
797303018 - Hyperlysinemia (disorder) (en) View
797303018	en	Fully specified name (core metadata concept)	Hyperlysinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1231845018 - Saccharopine dehydrogenase deficiency (en) View
1231845018	en	Synonym (core metadata concept)	Saccharopine dehydrogenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
97311016 - Hyperlysinaemia, NOS (en) View
97311016	en	Synonym (core metadata concept)	Hyperlysinaemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
97310015 - Hyperlysinemia, NOS (en) View
97310015	en	Synonym (core metadata concept)	Hyperlysinemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (819174026) - 58558003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (819175025) - 58558003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (243325025) - 58558003 -> 237929000 (116680003) View
116680003 \|Is a (attribute)\|	237929000 \|Disorder of lysine and hydroxylysine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (243326029) - 58558003 -> 46556004 (116680003) View
116680003 \|Is a (attribute)\|	46556004 \|Aminoacidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
46556004 View
46556004	Aminoacidemia (disorder)	Aminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237929000 View
237929000	Disorder of lysine and hydroxylysine metabolism (disorder)	Lysine and hydroxylysine metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
66002008 View
66002008	Persistent hyperlysinemia (disorder)	Persistent hyperlysinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
341536001 View
341536001	Periodic hyperlysinemia (disorder)	Periodic hyperlysinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
342553006 View
342553006	Periodic hyperlysinemia with hyperammonemia (disorder)	Hyperlysinuria with hyperammonemia	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 (50b1fdc8-3bc2-5f60-b874-b0ff52c38bbf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.3	TRUE	ALWAYS E72.3	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 58558003

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