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Terminology chevron_right Concepts chevron_right 45812003

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Component

45812003

The component that hold information about this concept.

Fully Specified Name (FSN)

Familial methionine malabsorption (disorder)

Shortest Term

Oasthouse disease

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

Familial methionine malabsorption (disorder)

SCTID: 45812003, Primitive, Active

45812003|Familial methionine malabsorption (disorder)|

en Oasthouse disease
en Familial methionine malabsorption
en Familial methionine malabsorption (disorder)
en Methionine malabsorption syndrome
en Oast-house disease
en Oast-house urine disease
en Smith-strang disease

Expression

45812003 |Familial methionine malabsorption (disorder)|
 <<< 236470002 |Specific renal tubule transport defect (disorder)| + 
28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)| + 
106000008 |Metabolic renal disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
76401014 - Beery-baby syndrome (en) View
76401014	en	Synonym (core metadata concept)	Beery-baby syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
1230267016 - Oasthouse disease (en) View
1230267016	en	Synonym (core metadata concept)	Oasthouse disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
76397018 - Familial methionine malabsorption (en) View
76397018	en	Synonym (core metadata concept)	Familial methionine malabsorption	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
783093016 - Familial methionine malabsorption (disorder) (en) View
783093016	en	Fully specified name (core metadata concept)	Familial methionine malabsorption (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
76399015 - Methionine malabsorption syndrome (en) View
76399015	en	Synonym (core metadata concept)	Methionine malabsorption syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
76402019 - Oast-house disease (en) View
76402019	en	Synonym (core metadata concept)	Oast-house disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
76398011 - Oast-house urine disease (en) View
76398011	en	Synonym (core metadata concept)	Oast-house urine disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
76400010 - Smith-Strang disease (en) View
76400010	en	Synonym (core metadata concept)	Smith-Strang disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15058017027) - 45812003 -> 106000008 (116680003) View
116680003 \|Is a (attribute)\|	106000008 \|Metabolic renal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (786575025) - 45812003 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (222638028) - 45812003 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (786576029) - 45812003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (222640022) - 45812003 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (222637022) - 45812003 -> 236470002 (116680003) View
116680003 \|Is a (attribute)\|	236470002 \|Specific renal tubule transport defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (222639020) - 45812003 -> 28882002 (116680003) View
116680003 \|Is a (attribute)\|	28882002 \|Disorder of sulfur-bearing amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106000008 View
106000008	Metabolic renal disease (disorder)	Metabolic renal disease	900000000000073002 \|Sufficiently defined by necessary conditions 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
236470002 View
236470002	Specific renal tubule transport defect (disorder)	Specific renal tubule transport defect	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 (0160affd-f3b2-5cd0-b4f0-a2853e44a262) 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)\|

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