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Terminology chevron_right Concepts chevron_right 124177001

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Component

124177001

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of pyrroline-5-carboxylate reductase (disorder)

Shortest Term

Hyperprolinemia type ii

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

Deficiency of pyrroline-5-carboxylate reductase (disorder)

SCTID: 124177001, Primitive, Active

124177001|Deficiency of pyrroline-5-carboxylate reductase (disorder)|

en Deficiency of pyrroline-5-carboxylate reductase
en Deficiency of pyrroline-5-carboxylate reductase (disorder)
en Pyrroline-5-carboxylate reductase deficiency
en Delta'-pyrroline-5-carboxylate dehydrogenase deficiency

Expression

124177001 |Deficiency of pyrroline-5-carboxylate reductase (disorder)|
 <<< 129456006 |Specific enzyme deficiency (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
203666012 - Deficiency of pyrroline-5-carboxylate reductase (en) View
203666012	en	Synonym (core metadata concept)	Deficiency of pyrroline-5-carboxylate reductase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727674010 - Deficiency of pyrroline-5-carboxylate reductase (disorder) (en) View
727674010	en	Fully specified name (core metadata concept)	Deficiency of pyrroline-5-carboxylate reductase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
473042010 - Pyrroline-5-carboxylate reductase deficiency (en) View
473042010	en	Synonym (core metadata concept)	Pyrroline-5-carboxylate reductase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473039016 - Hyperprolinaemia type II (en) View
473039016	en	Synonym (core metadata concept)	Hyperprolinaemia type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
473043017 - Hyperprolinaemia, type II (en) View
473043017	en	Synonym (core metadata concept)	Hyperprolinaemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
473038012 - Hyperprolinemia type II (en) View
473038012	en	Synonym (core metadata concept)	Hyperprolinemia type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
473040019 - Hyperprolinemia, type II (en) View
473040019	en	Synonym (core metadata concept)	Hyperprolinemia, type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
473041015 - delta'-Pyrroline-5-carboxylate dehydrogenase deficiency (en) View
473041015	en	Synonym (core metadata concept)	delta'-Pyrroline-5-carboxylate dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (157085028) - 124177001 -> 37800003 (116680003) View
116680003 \|Is a (attribute)\|	37800003 \|Disorder of proline and/or hydroxyproline metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (690124026) - 124177001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (690125025) - 124177001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157086027) - 124177001 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	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 (cb1336bc-3df6-59db-9ce9-fa548a59168d) 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)\|

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