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Terminology chevron_right Concepts chevron_right 61071003

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Component

61071003

The component that hold information about this concept.

Fully Specified Name (FSN)

Proline dehydrogenase deficiency (disorder)

Shortest Term

Hyperprolinemia type i

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

Proline dehydrogenase deficiency (disorder)

SCTID: 61071003, Primitive, Active

61071003|Proline dehydrogenase deficiency (disorder)|

en Proline dehydrogenase deficiency
en Proline dehydrogenase deficiency (disorder)
en Proline oxidase deficiency
en Hyperprolinaemia type i
en Hyperprolinemia type i
en Hyperprolinaemia, type i
en Hyperprolinemia, type i

Expression

61071003 |Proline dehydrogenase deficiency (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
59655002 |Hyperprolinemia (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
101484012 - Proline dehydrogenase deficiency (en) View
101484012	en	Synonym (core metadata concept)	Proline dehydrogenase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
800093016 - Proline dehydrogenase deficiency (disorder) (en) View
800093016	en	Fully specified name (core metadata concept)	Proline dehydrogenase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
101486014 - Proline oxidase deficiency (en) View
101486014	en	Synonym (core metadata concept)	Proline oxidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1216791011 - Hyperprolinaemia type I (en) View
1216791011	en	Synonym (core metadata concept)	Hyperprolinaemia type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1218279011 - Hyperprolinemia type I (en) View
1218279011	en	Synonym (core metadata concept)	Hyperprolinemia type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
498929018 - Hyperprolinaemia, type I (en) View
498929018	en	Synonym (core metadata concept)	Hyperprolinaemia, type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
101485013 - Hyperprolinemia, type I (en) View
101485013	en	Synonym (core metadata concept)	Hyperprolinemia, type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (826053028) - 61071003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2694659025) - 61071003 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (826052022) - 61071003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (247443028) - 61071003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (247444023) - 61071003 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (247445024) - 61071003 -> 59655002 (116680003) View
116680003 \|Is a (attribute)\|	59655002 \|Hyperprolinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
59655002 View
59655002	Hyperprolinemia (disorder)	Hyperprolinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	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 (1e83a52e-8240-5264-82e9-8a6a0bdee531) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.5	TRUE	ALWAYS E72.5	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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