dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 28882002

Production

add

Component

28882002

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of sulfur-bearing amino acid metabolism (disorder)

Shortest Term

Sulfuraminoacidemia

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 sulfur-bearing amino acid metabolism (disorder)

SCTID: 28882002, Primitive, Active

28882002|Disorder of sulfur-bearing amino acid metabolism (disorder)|

en Disorder of sulfur-bearing amino acid metabolism
en Disorder of sulfur-bearing amino acid metabolism (disorder)
en Disorder of sulphur-bearing amino acid metabolism
en Disorder of transsulfuration
en Disorder of transsulphuration
en Sulfuraminoacidemia
en Sulphuraminoacidaemia
en Disorder of sulfur-bearing amino acid including those due to folate and b12 disturbance
en Disorder of sulphur-bearing amino acid including those due to folate and b12 disturbance

Expression

28882002 |Disorder of sulfur-bearing amino acid 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
484002019 - Disorder of sulfur-bearing amino acid metabolism (en) View
484002019	en	Synonym (core metadata concept)	Disorder of sulfur-bearing amino acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
759612010 - Disorder of sulfur-bearing amino acid metabolism (disorder) (en) View
759612010	en	Fully specified name (core metadata concept)	Disorder of sulfur-bearing amino acid metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
48363014 - Disorder of sulphur-bearing amino acid metabolism (en) View
48363014	en	Synonym (core metadata concept)	Disorder of sulphur-bearing amino acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
48366018 - Disorder of transsulfuration (en) View
48366018	en	Synonym (core metadata concept)	Disorder of transsulfuration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484003012 - Disorder of transsulphuration (en) View
484003012	en	Synonym (core metadata concept)	Disorder of transsulphuration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
48367010 - Sulfuraminoacidemia (en) View
48367010	en	Synonym (core metadata concept)	Sulfuraminoacidemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484004018 - Sulphuraminoacidaemia (en) View
484004018	en	Synonym (core metadata concept)	Sulphuraminoacidaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
484006016 - Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance (en) View
484006016	en	Synonym (core metadata concept)	Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
484005017 - Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance (en) View
484005017	en	Synonym (core metadata concept)	Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
196698011 - Disorder of sulphur-bearing amino acid metabolism, NOS (en) View
196698011	en	Synonym (core metadata concept)	Disorder of sulphur-bearing amino acid metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
48364015 - Disorder of transsulfuration, NOS (en) View
48364015	en	Synonym (core metadata concept)	Disorder of transsulfuration, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
48365019 - Sulfuraminoacidemia, NOS (en) View
48365019	en	Synonym (core metadata concept)	Sulfuraminoacidemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (195008023) - 28882002 -> 44779003 (116680003) View
116680003 \|Is a (attribute)\|	44779003 \|Disorder of amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (744265025) - 28882002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2690347026) - 28882002 -> 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 (744266029) - 28882002 -> 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
1340174002 View
1340174002	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)	Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1269235004 View
1269235004	Autosomal recessive extra-oral halitosis (disorder)	Methanethiol oxidase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784373007 View
784373007	Beta-mercaptolactate cysteine disulfiduria (disorder)	Ampola syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
419503008 View
419503008	Hyperhomocysteinemia (disorder)	Tăng homocystein máu	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
414380008 View
414380008	Hawkinsinuria (disorder)	Hawkinsinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
6669004 View
6669004	Cystathioninemia (disorder)	Cystathioninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11282001 View
11282001	Homocystinuria (disorder)	Homocystinuria	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
24308003 View
24308003	Cystathionine beta-synthase deficiency (disorder)	Cbs deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
40873003 View
40873003	Sulfite oxidase deficiency syndrome (disorder)	Sulfocysteinuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41797007 View
41797007	5,10-methylenetetrahydrofolate reductase deficiency (disorder)	Methylenetetrahydrofolate reductase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43123004 View
43123004	Hypermethioninemia (disorder)	Hypermethioninemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45812003 View
45812003	Familial methionine malabsorption (disorder)	Oasthouse disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52311001 View
52311001	Homocystinemia (disorder)	Homocystinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59761008 View
59761008	Glutamate formiminotransferase deficiency (disorder)	Figluria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62578003 View
62578003	Congenital defect of folate absorption (disorder)	Folate transport defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89579000 View
89579000	Tetrahydrofolate methyltransferase deficiency (disorder)	Thf methyltransferase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124178006 View
124178006	Deficiency of dihydrofolate reductase (disorder)	Dihydrofolate reductase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234363001 View
234363001	Selective malabsorption of cyanocobalamin (disorder)	Imerslund disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237933007 View
237933007	Transcobalamin i deficiency (disorder)	R-binder deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237934001 View
237934001	Transcobalamin ii deficiency (disorder)	Transcobalamin ii deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
360376008 View
360376008	Functional defects of methionine synthase (disorder)	Functional defects of methionine synthase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367368009 View
367368009	Sulfite oxidase deficiency (disorder)	Sulfite oxidase 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 (21d5f896-a729-5304-bce5-143f8d3bb447) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.1	TRUE	ALWAYS E72.1	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 28882002

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches