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Terminology chevron_right Concepts chevron_right 48796009

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Component

48796009

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital nephrotic syndrome (disorder)

Shortest Term

Familial nephrotic syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital nephrotic syndrome (disorder)

SCTID: 48796009, Defined, Active

48796009|Congenital nephrotic syndrome (disorder)|

en Congenital nephrotic syndrome
en Congenital nephrotic syndrome (disorder)
en Familial nephrotic syndrome

Expression

48796009 |Congenital nephrotic syndrome (disorder)|
 === 896985007 |Structural abnormality of renal corpuscle (disorder)| + 
52254009 |Nephrotic syndrome (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1367653005 |Genetic disease of glomerulus (disorder)| + 
44513007 |Congenital anomaly of the kidney (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68288006 |Glomerulus structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 57378007 |Measurement of protein in urine (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 26758005 |Albumin measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
81307015 - Congenital nephrotic syndrome (en) View
81307015	en	Synonym (core metadata concept)	Congenital nephrotic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
786403011 - Congenital nephrotic syndrome (disorder) (en) View
786403011	en	Fully specified name (core metadata concept)	Congenital nephrotic syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
81308013 - Familial nephrotic syndrome (en) View
81308013	en	Synonym (core metadata concept)	Familial nephrotic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16374921021) - 48796009 -> 1367653005 (116680003) View
116680003 \|Is a (attribute)\|	1367653005 \|Genetic disease of glomerulus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16381734022) - 48796009 -> 896985007 (116680003) View
116680003 \|Is a (attribute)\|	896985007 \|Structural abnormality of renal corpuscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068966028) - 48796009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227457020) - 48796009 -> 44513007 (116680003) View
116680003 \|Is a (attribute)\|	44513007 \|Congenital anomaly of the kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (794049023) - 48796009 -> 68288006 (363698007) View
363698007 \|Finding site (attribute)\|	68288006 \|Glomerulus structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4990582024) - 48796009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5043450023) - 48796009 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5043451022) - 48796009 -> 68288006 (363698007) View
363698007 \|Finding site (attribute)\|	68288006 \|Glomerulus structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6077241024) - 48796009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548705025) - 48796009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548706029) - 48796009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548707022) - 48796009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102205023) - 48796009 -> 26758005 (363714003) View
363714003 \|Interprets (attribute)\|	26758005 \|Albumin measurement (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102206024) - 48796009 -> 57378007 (363714003) View
363714003 \|Interprets (attribute)\|	57378007 \|Measurement of protein in urine (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102207026) - 48796009 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102208020) - 48796009 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5043449023) - 48796009 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5989599022) - 48796009 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (794047020) - 48796009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2032189029) - 48796009 -> 44513007 (116680003) View
116680003 \|Is a (attribute)\|	44513007 \|Congenital anomaly of the kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3389384027) - 48796009 -> 68288006 (363698007) View
363698007 \|Finding site (attribute)\|	68288006 \|Glomerulus structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3461334027) - 48796009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2692935020) - 48796009 -> 76910007 (116680003) View
116680003 \|Is a (attribute)\|	76910007 \|Renal glomerular disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794048026) - 48796009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794050023) - 48796009 -> 122489005 (363698007) View
363698007 \|Finding site (attribute)\|	122489005 \|Urinary system structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1676436020) - 48796009 -> 73262007 (116680003) View
116680003 \|Is a (attribute)\|	73262007 \|Congenital anomaly of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (794051022) - 48796009 -> 211384000 (260908002) View
260908002 \|Course (attribute)\|	211384000 \|Multiple superficial injuries of lower leg (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (227458026) - 48796009 -> 52254009 (116680003) View
116680003 \|Is a (attribute)\|	52254009 \|Nephrotic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
896985007 View
896985007	Structural abnormality of renal corpuscle (disorder)	Abnormal renal corpuscle morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1367653005 View
1367653005	Genetic disease of glomerulus (disorder)	Genetic disease of glomerulus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
52254009 View
52254009	Nephrotic syndrome (disorder)	Nephrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
44513007 View
44513007	Congenital anomaly of the kidney (disorder)	Congenital anomaly of kidney	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
197601003 View
197601003	Finnish congenital nephrotic syndrome (disorder)	Congenital finnish nephrosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
236383002 View
236383002	Familial mesangial sclerosis (disorder)	Familial mesangial sclerosis	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 (27843929-25e9-507a-8467-28e378d96391) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	N04.9	TRUE	ALWAYS N04.9 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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