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Terminology chevron_right Concepts chevron_right 29094004

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Component

29094004

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of porphyrin metabolism (disorder)

Shortest Term

Disorder of porphyrin metabolism

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

Disorder of porphyrin metabolism (disorder)

SCTID: 29094004, Primitive, Active

29094004|Disorder of porphyrin metabolism (disorder)|

en Disorder of porphyrin and haem metabolism
en Disorder of porphyrin and heme metabolism
en Disorder of porphyrin metabolism
en Disorder of porphyrin metabolism (disorder)

Expression

29094004 |Disorder of porphyrin metabolism (disorder)|
 <<< 75934005 |Metabolic disease (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1216293013 - Disorder of porphyrin and haem metabolism (en) View
1216293013	en	Synonym (core metadata concept)	Disorder of porphyrin and haem metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1217792011 - Disorder of porphyrin and heme metabolism (en) View
1217792011	en	Synonym (core metadata concept)	Disorder of porphyrin and heme metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
48697013 - Disorder of porphyrin metabolism (en) View
48697013	en	Synonym (core metadata concept)	Disorder of porphyrin metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
759949018 - Disorder of porphyrin metabolism (disorder) (en) View
759949018	en	Fully specified name (core metadata concept)	Disorder of porphyrin metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
48698015 - Disorder of porphyrin metabolism, NOS (en) View
48698015	en	Synonym (core metadata concept)	Disorder of porphyrin metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (195339027) - 29094004 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (744931024) - 29094004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2770246025) - 29094004 -> 75934005 (116680003) View
116680003 \|Is a (attribute)\|	75934005 \|Metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (744932028) - 29094004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
75934005 View
75934005	Metabolic disease (disorder)	Bệnh chuyển hóa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1230003009 View
1230003009	Heme oxygenase-1 deficiency (disorder)	Heme oxygenase-1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
418470004 View
418470004	Porphyria (disorder)	Porphyria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403832004 View
403832004	Inherited disorder of porphyrin metabolism (disorder)	Inherited disorder of porphyrin metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
371628009 View
371628009	Porphyrinopathy (disorder)	Porphyrinopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44574006 View
44574006	Porphyruria (disorder)	Pink tooth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80006005 View
80006005	Disorder of bilirubin metabolism (disorder)	Bilirubin metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276262000 View
276262000	Uroporphyrinogen decarboxylase deficiency (disorder)	Uroporphyrinogen decarboxylase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276263005 View
276263005	Porphobilinogen deaminase deficiency (disorder)	Pbgd deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276265003 View
276265003	Ferrochelatase deficiency (disorder)	Ferrochelatase deficiency	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 (94ef86e4-c4c2-5fe0-a1f8-bce2e259aa88) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E80.2	TRUE	ALWAYS E80.2 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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 29094004

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