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Terminology chevron_right Concepts chevron_right 80887004

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Component

80887004

The component that hold information about this concept.

Fully Specified Name (FSN)

Inherited methylmalonic acidemia and homocystinuria (disorder)

Shortest Term

Cobalamin locus f variant

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

Inherited methylmalonic acidemia and homocystinuria (disorder)

SCTID: 80887004, Primitive, Active

80887004|Inherited methylmalonic acidemia and homocystinuria (disorder)|

en Cblf methylmalonic acidemia and homocystinuria
en Cblf - cobalamin locus f variant
en Cblf methylmalonic acidaemia and homocystinuria
en Cobalamin locus f variant
en Inherited methylmalonic acidaemia and homocystinuria
en Inherited methylmalonic acidemia and homocystinuria
en Inherited methylmalonic acidemia and homocystinuria (disorder)

Expression

80887004 |Inherited methylmalonic acidemia and homocystinuria (disorder)|
 <<< 4409006 |Adenosylcobalamin and methylcobalamin synthesis defect (disorder)| + 
11282001 |Homocystinuria (disorder)| + 
1821000146108 |Hereditary metabolic disease (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
504534011 - CblF methylmalonic acidemia and homocystinuria (en) View
504534011	en	Synonym (core metadata concept)	CblF methylmalonic acidemia and homocystinuria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504532010 - CblF - Cobalamin locus F variant (en) View
504532010	en	Synonym (core metadata concept)	CblF - Cobalamin locus F variant	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504536013 - CblF methylmalonic acidaemia and homocystinuria (en) View
504536013	en	Synonym (core metadata concept)	CblF methylmalonic acidaemia and homocystinuria	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504533017 - Cobalamin locus F variant (en) View
504533017	en	Synonym (core metadata concept)	Cobalamin locus F variant	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
504535012 - Inherited methylmalonic acidaemia AND homocystinuria (en) View
504535012	en	Synonym (core metadata concept)	Inherited methylmalonic acidaemia AND homocystinuria	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
134169014 - Inherited methylmalonic acidemia and homocystinuria (en) View
134169014	en	Synonym (core metadata concept)	Inherited methylmalonic acidemia and homocystinuria	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
134168018 - Inherited methylmalonic acidemia AND homocystinuria (en) View
134168018	en	Synonym (core metadata concept)	Inherited methylmalonic acidemia AND homocystinuria	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
822096011 - Inherited methylmalonic acidemia AND homocystinuria (disorder) (en) View
822096011	en	Fully specified name (core metadata concept)	Inherited methylmalonic acidemia AND homocystinuria (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12251903025) - 80887004 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15281257024) - 80887004 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (875973026) - 80887004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (875974021) - 80887004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (279477022) - 80887004 -> 4409006 (116680003) View
116680003 \|Is a (attribute)\|	4409006 \|Adenosylcobalamin and methylcobalamin synthesis defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (279478028) - 80887004 -> 11282001 (116680003) View
116680003 \|Is a (attribute)\|	11282001 \|Homocystinuria (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
4409006 View
4409006	Adenosylcobalamin and methylcobalamin synthesis defect (disorder)	Adenosylcobalamin and methylcobalamin synthesis defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11282001 View
11282001	Homocystinuria (disorder)	Homocystinuria	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 (a34ff59a-a26f-5f2f-8cc2-8497bfab1328) 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)\|

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