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Terminology chevron_right Concepts chevron_right 303098002

Production

Language with ID “de86bf64-c1fe-5994-a52a-79ad8dcecb4e” doesn’t exist. Perhaps it was deleted?
Language with ID “3ea7ea4a-e995-5dcf-98da-a26d39403e33” doesn’t exist. Perhaps it was deleted?
Language with ID “eeb2aa9f-d4b9-5ec2-bcc7-e22cb1f79552” doesn’t exist. Perhaps it was deleted?

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

3-phosphoglycerate dehydrogenase deficiency (disorder)

Shortest Term

3-phosphoglycerate dehydrogenase deficiency

Definition Status

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

Summary

3-phosphoglycerate dehydrogenase deficiency (disorder)

SCTID: 303098002, Primitive, Active

303098002|3-phosphoglycerate dehydrogenase deficiency (disorder)|

Expression

303098002 |3-phosphoglycerate dehydrogenase deficiency (disorder)|
 <<< 303097007 |Disorder of serine metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
445173015 - 3-Phosphoglycerate dehydrogenase deficiency (en) View
445173015	en	Synonym (core metadata concept)	3-Phosphoglycerate dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
699276016 - 3-Phosphoglycerate dehydrogenase deficiency (disorder) (en) View
699276016	en	Fully specified name (core metadata concept)	3-Phosphoglycerate dehydrogenase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (661703025) - 303098002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (661704020) - 303098002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (128916024) - 303098002 -> 303097007 (116680003) View
116680003 \|Is a (attribute)\|	303097007 \|Disorder of serine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
303097007 View
303097007	Disorder of serine metabolism (disorder)	Disorder of serine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
733636005 View
733636005	3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	3-phosphoglycerate dehydrogenase deficiency juvenile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733637001 View
733637001	3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	3-phosphoglycerate dehydrogenase deficiency infantile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
77817004 View
77817004	Neu-laxova syndrome (disorder)	Neu-laxova syndrome	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 (1bae4f49-8926-52b0-aa44-962b14a4f0e0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.8	TRUE	ALWAYS E72.8	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