dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 46683007

Production

add

Component

46683007

The component that hold information about this concept.

Fully Specified Name (FSN)

Pyruvate dehydrogenase complex deficiency (disorder)

Shortest Term

Pdh deficiency

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

Pyruvate dehydrogenase complex deficiency (disorder)

SCTID: 46683007, Primitive, Active

46683007|Pyruvate dehydrogenase complex deficiency (disorder)|

en Ataxia with lactic acidosis
en Deficiency of pyruvate dehydrogenase (cytochrome)
en Deficiency of pyruvic dehydrogenase
en Pyruvate dehydrogenase complex deficiency
en Pyruvate dehydrogenase complex deficiency (disorder)
en Pyruvate dehydrogenase deficiency
en Ataxia with lactic acidosis i
en Pdh deficiency
en Pdh - pyruvate dehydrogenase deficiency

Expression

46683007 |Pyruvate dehydrogenase complex deficiency (disorder)|
 <<< 53210006 |Inborn error of pyruvate metabolism (disorder)| + 
91273001 |Lactic acidosis (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
494580019 - Ataxia with lactic acidosis (en) View
494580019	en	Synonym (core metadata concept)	Ataxia with lactic acidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
494578013 - Deficiency of pyruvate dehydrogenase (cytochrome) (en) View
494578013	en	Synonym (core metadata concept)	Deficiency of pyruvate dehydrogenase (cytochrome)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
494579017 - Deficiency of pyruvic dehydrogenase (en) View
494579017	en	Synonym (core metadata concept)	Deficiency of pyruvic dehydrogenase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
77798015 - Pyruvate dehydrogenase complex deficiency (en) View
77798015	en	Synonym (core metadata concept)	Pyruvate dehydrogenase complex deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
784059014 - Pyruvate dehydrogenase complex deficiency (disorder) (en) View
784059014	en	Fully specified name (core metadata concept)	Pyruvate dehydrogenase complex deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
494582010 - Pyruvate dehydrogenase deficiency (en) View
494582010	en	Synonym (core metadata concept)	Pyruvate dehydrogenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
77800010 - Ataxia with lactic acidosis I (en) View
77800010	en	Synonym (core metadata concept)	Ataxia with lactic acidosis I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
77799011 - PDH deficiency (en) View
77799011	en	Synonym (core metadata concept)	PDH deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
494581015 - PDH - Pyruvate dehydrogenase deficiency (en) View
494581015	en	Synonym (core metadata concept)	PDH - Pyruvate dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (789041021) - 46683007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (789042025) - 46683007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224087026) - 46683007 -> 237981000 (116680003) View
116680003 \|Is a (attribute)\|	237981000 \|Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224088020) - 46683007 -> 53210006 (116680003) View
116680003 \|Is a (attribute)\|	53210006 \|Inborn error of pyruvate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (224089028) - 46683007 -> 91273001 (116680003) View
116680003 \|Is a (attribute)\|	91273001 \|Lactic acidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
53210006 View
53210006	Inborn error of pyruvate metabolism (disorder)	Inborn error of pyruvate metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
91273001 View
91273001	Lactic acidosis (disorder)	Lactic acidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003847003 View
1003847003	Pyruvate dehydrogenase phosphatase deficiency (disorder)	Pyruvate dehydrogenase phosphatase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003849000 View
1003849000	Pyruvate dehydrogenase complex e2 subunit deficiency (disorder)	Pyruvate dehydrogenase complex e2 subunit deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003850000 View
1003850000	Pyruvate dehydrogenase complex e1-alpha subunit deficiency (disorder)	Pyruvate dehydrogenase complex e1-alpha subunit deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003851001 View
1003851001	Pyruvate dehydrogenase complex e1 beta subunit deficiency (disorder)	Pyruvate dehydrogenase complex e1 beta subunit 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 (0f6a19c2-b4a2-51fa-bee7-32c35ad7ba3e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.4	TRUE	ALWAYS E74.4	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 46683007

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches