dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 42930003

Production

add

Component

42930003

The component that hold information about this concept.

Fully Specified Name (FSN)

Inborn error of amino acid metabolism (disorder)

Shortest Term

Hyperaminoaciduria

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

Inborn error of amino acid metabolism (disorder)

SCTID: 42930003, Primitive, Active

42930003|Inborn error of amino acid metabolism (disorder)|

en Hyperaminoaciduria
en Inborn error of amino acid metabolism
en Inborn error of amino acid metabolism (disorder)

Expression

42930003 |Inborn error of amino acid metabolism (disorder)|
 <<< 237911005 |Disorder of amino acid and organic acid metabolism (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
71640011 - Hyperaminoaciduria (en) View
71640011	en	Synonym (core metadata concept)	Hyperaminoaciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
71637011 - Inborn error of amino acid metabolism (en) View
71637011	en	Synonym (core metadata concept)	Inborn error of amino acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
779885015 - Inborn error of amino acid metabolism (disorder) (en) View
779885015	en	Fully specified name (core metadata concept)	Inborn error of amino acid metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
71639014 - Hyperaminoaciduria, NOS (en) View
71639014	en	Synonym (core metadata concept)	Hyperaminoaciduria, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
71638018 - Inborn error of amino acid metabolism, NOS (en) View
71638018	en	Synonym (core metadata concept)	Inborn error of amino acid metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (779405024) - 42930003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (218008026) - 42930003 -> 44779003 (116680003) View
116680003 \|Is a (attribute)\|	44779003 \|Disorder of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2692097028) - 42930003 -> 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 (2692098022) - 42930003 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (779404023) - 42930003 -> 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
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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
1306747001 View
1306747001	Isobutyryl-coenzyme a dehydrogenase deficiency disease (disorder)	Isobutyric aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1306751004 View
1306751004	2-methylbutyryl-coenzyme a dehydrogenase deficiency disease (disorder)	2-methylbutyric aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782757004 View
782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)	Asparagine synthetase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765329008 View
765329008	Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Carbamoyl-phosphate synthetase 1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
13003007 View
13003007	Cystathioninuria (disorder)	Cystathioninuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
360416003 View
360416003	Glutaryl-coa dehydrogenase deficiency (disorder)	Glutaric acidemia type 1	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 (3e413256-6c64-5ff8-9a98-3e10c0697fa8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.9	TRUE	ALWAYS E72.9	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 42930003

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches