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Terminology chevron_right Concepts chevron_right 11282001

Production

Language with ID “37f576d3-e64d-52fa-ba4e-3de047a7e8ef” doesn’t exist. Perhaps it was deleted?

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Homocystinuria (disorder)

Shortest Term

Homocystinuria

Definition Status

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

Summary

Homocystinuria (disorder)

SCTID: 11282001, Primitive, Active

11282001|Homocystinuria (disorder)|

Expression

11282001 |Homocystinuria (disorder)|
 <<< 28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
19556013 - Homocystinuria (en) View
19556013	en	Synonym (core metadata concept)	Homocystinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
643881012 - Homocystinuria (disorder) (en) View
643881012	en	Fully specified name (core metadata concept)	Homocystinuria (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
19557016 - Homocystinuria, NOS (en) View
19557016	en	Synonym (core metadata concept)	Homocystinuria, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (568507024) - 11282001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568506026) - 11282001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (72967029) - 11282001 -> 28882002 (116680003) View
116680003 \|Is a (attribute)\|	28882002 \|Disorder of sulfur-bearing amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28882002 View
28882002	Disorder of sulfur-bearing amino acid metabolism (disorder)	Sulfuraminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
721225009 View
721225009	Homocystinuria without methylmalonic aciduria (disorder)	Functional methionine synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28093001 View
28093001	Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)	Methylene thf reductase deficiency and homocystinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80887004 View
80887004	Inherited methylmalonic acidemia and homocystinuria (disorder)	Cobalamin locus f variant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
360373000 View
360373000	Homocystinuria vitamin b12-responsive type iii (disorder)	Homocystinuria vitamin b12-responsive type iii	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 (fc721610-ce3b-5e29-b6b4-edd4443a4253) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.1	TRUE	ALWAYS E72.1	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)\|

Descriptions