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Terminology chevron_right Concepts chevron_right 236475007

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Component

236475007

The component that hold information about this concept.

Fully Specified Name (FSN)

Dibasic aminoaciduria (disorder)

Shortest Term

Dibasic aminoaciduria

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

Dibasic aminoaciduria (disorder)

SCTID: 236475007, Primitive, Active

236475007|Dibasic aminoaciduria (disorder)|

en Dibasic aminoaciduria
en Dibasic aminoaciduria (disorder)

Expression

236475007 |Dibasic aminoaciduria (disorder)|
 <<< 236470002 |Specific renal tubule transport defect (disorder)| + 
106000008 |Metabolic renal disease (disorder)| + 
16784003 |Amino acid transport disorder (disorder)| + 
782964007 |Genetic 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
354476015 - Dibasic aminoaciduria (en) View
354476015	en	Synonym (core metadata concept)	Dibasic aminoaciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
625074011 - Dibasic aminoaciduria (disorder) (en) View
625074011	en	Fully specified name (core metadata concept)	Dibasic aminoaciduria (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (51542020) - 236475007 -> 303852004 (116680003) View
116680003 \|Is a (attribute)\|	303852004 \|Lysinuric protein intolerance (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16436622020) - 236475007 -> 16784003 (116680003) View
116680003 \|Is a (attribute)\|	16784003 \|Amino acid transport disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16436636026) - 236475007 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15058023021) - 236475007 -> 106000008 (116680003) View
116680003 \|Is a (attribute)\|	106000008 \|Metabolic renal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (522625028) - 236475007 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (51541029) - 236475007 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (522626027) - 236475007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (51543026) - 236475007 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (51540028) - 236475007 -> 236470002 (116680003) View
116680003 \|Is a (attribute)\|	236470002 \|Specific renal tubule transport defect (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
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	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
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
50056009 View
50056009	Dibasic amino aciduria type 1 (disorder)	Dibasic amino aciduria type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303852004 View
303852004	Lysinuric protein intolerance (disorder)	Congenital lysinuria	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 (373407a6-de9b-5199-b0d1-7c24c848f20c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.0	TRUE	ALWAYS E72.0	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)\|
ExtendedMap object (ae43f3e4-8194-55ac-a980-8dfab0b703a1) 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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