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Terminology chevron_right Concepts chevron_right 237911005

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Component

237911005

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of amino acid and organic acid metabolism (disorder)

Shortest Term

Disorder of amino acid and organic acid metabolism

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

Disorder of amino acid and organic acid metabolism (disorder)

SCTID: 237911005, Primitive, Active

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

en Disorder of amino acid and organic acid metabolism
en Disorder of amino acid and organic acid metabolism (disorder)

Expression

237911005 |Disorder of amino acid and organic acid metabolism (disorder)|
 <<< 44779003 |Disorder of amino acid metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356569014 - Disorder of amino acid and organic acid metabolism (en) View
356569014	en	Synonym (core metadata concept)	Disorder of amino acid and organic acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626710014 - Disorder of amino acid and organic acid metabolism (disorder) (en) View
626710014	en	Fully specified name (core metadata concept)	Disorder of amino acid and organic acid metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (53537024) - 237911005 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53538025) - 237911005 -> 116021002 (116680003) View
116680003 \|Is a (attribute)\|	116021002 \|Disorder of organic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526849026) - 237911005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2714375026) - 237911005 -> 44779003 (116680003) View
116680003 \|Is a (attribute)\|	44779003 \|Disorder of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526848023) - 237911005 -> 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
44779003 View
44779003	Disorder of amino acid metabolism (disorder)	Amino acidopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1172966001 View
1172966001	Multiple carboxylase deficiency (disorder)	Multiple carboxylase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733072002 View
733072002	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	Stimmler syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443894002 View
443894002	Alpha ketoadipic aciduria (disorder)	Alpha ketoadipic aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
2359002 View
2359002	Hyper-beta-alaninemia (disorder)	Hyperalaninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5181007 View
5181007	Disorder of tryptophan metabolism (disorder)	Disorder of tryptophan metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
9128006 View
9128006	Disorder of the gamma-glutamyl cycle (disorder)	Disorder of gamma-glutamyl cycle	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
12957008 View
12957008	Disorder of phenylalanine metabolism (disorder)	Disorder of phenylalanine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16784003 View
16784003	Amino acid transport disorder (disorder)	Amino acid transport disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28882002 View
28882002	Disorder of sulfur-bearing amino acid metabolism (disorder)	Sulfuraminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28987007 View
28987007	Glutaric aciduria (disorder)	Glutaric aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36444000 View
36444000	Disorder of the urea cycle metabolism (disorder)	Disorder of urea cycle	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
37200009 View
37200009	Disorder of tyrosine metabolism (disorder)	Disorder of tyrosine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
37800003 View
37800003	Disorder of proline and/or hydroxyproline metabolism (disorder)	Iminoacidopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42930003 View
42930003	Inborn error of amino acid metabolism (disorder)	Hyperaminoaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44176004 View
44176004	Disorder of histidine metabolism (disorder)	Disorder of histidine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
46556004 View
46556004	Aminoacidemia (disorder)	Aminoacidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64235006 View
64235006	Ethanolaminosis (disorder)	Ethanolaminosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80544005 View
80544005	Spongy degeneration of central nervous system (disorder)	Canavan's disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
83076007 View
83076007	Disorder of glycine metabolism (disorder)	Disorder of glycine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111397004 View
111397004	Saccharopinuria (disorder)	Saccharopinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
116020001 View
116020001	Disorder of branched-chain amino acid metabolism (disorder)	Branched chain amino acid metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190680002 View
190680002	Disorders of amino acid transport and metabolism (disorder)	Disorders of amino acid transport and metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190722000 View
190722000	Disorder of threonine metabolism (disorder)	Disorder of threonine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190724004 View
190724004	Disorder of glutamine metabolism (disorder)	Disorder of glutamine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190732007 View
190732007	Alaninemia (disorder)	Alaninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237929000 View
237929000	Disorder of lysine and hydroxylysine metabolism (disorder)	Lysine and hydroxylysine metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237940008 View
237940008	Disorder of beta and omega amino acid metabolism (disorder)	Disorder of beta and omega amino acid metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237959005 View
237959005	Trimethylaminuria (disorder)	Trimethylaminuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303097007 View
303097007	Disorder of serine metabolism (disorder)	Disorder of serine metabolism	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 (53257862-5771-5b78-8ffb-d0de504131d5) 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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