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Terminology chevron_right Concepts chevron_right 303097007

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of serine metabolism (disorder)

Shortest Term

Disorder of serine metabolism

Definition Status

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

Summary

Disorder of serine metabolism (disorder)

SCTID: 303097007, Primitive, Active

303097007|Disorder of serine metabolism (disorder)|

Expression

303097007 |Disorder of serine metabolism (disorder)|
 <<< 237911005 |Disorder of amino acid and organic acid metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
445172013 - Disorder of serine metabolism (en) View
445172013	en	Synonym (core metadata concept)	Disorder of serine metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
699275017 - Disorder of serine metabolism (disorder) (en) View
699275017	en	Fully specified name (core metadata concept)	Disorder of serine metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (128915023) - 303097007 -> 44779003 (116680003) View
116680003 \|Is a (attribute)\|	44779003 \|Disorder of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (661702024) - 303097007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2683560023) - 303097007 -> 237911005 (116680003) View
116680003 \|Is a (attribute)\|	237911005 \|Disorder of amino acid and organic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (661701028) - 303097007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237911005 View
237911005	Disorder of amino acid and organic acid metabolism (disorder)	Disorder of amino acid and organic acid metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1284855000 View
1284855000	Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder)	Serine biosynthesis pathway deficiency, infantile/juvenile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237418002 View
1237418002	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	Asct1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718603002 View
718603002	Deficiency of phosphoserine aminotransferase (disorder)	Phosphoserine aminotransferase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303098002 View
303098002	3-phosphoglycerate dehydrogenase deficiency (disorder)	3-phosphoglycerate dehydrogenase 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 (ed9b8f5b-b99a-54e0-b2f4-81b0a163eb31) 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