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Terminology chevron_right Concepts chevron_right 724093004

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Component

724093004

The component that hold information about this concept.

Fully Specified Name (FSN)

Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

Shortest Term

Edwards patton dilly syndrome

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

Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

SCTID: 724093004, Primitive, Active

724093004|Nephropathy, deafness, hyperparathyroidism syndrome (disorder)|

en Edwards patton dilly syndrome
en Nephropathy, deafness, hyperparathyroidism syndrome
en Nephropathy, deafness, hyperparathyroidism syndrome (disorder)

Expression

724093004 |Nephropathy, deafness, hyperparathyroidism syndrome (disorder)|
 <<< 9092004 |Parathyroid hyperplasia (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
42399005 |Renal failure syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 76197007 |Hyperplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 111002 |Parathyroid structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 60877009 |Hormone secretion, function (observable entity)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 11953005 |Renal function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3481739017 - Edwards Patton Dilly syndrome (en) View
3481739017	en	Synonym (core metadata concept)	Edwards Patton Dilly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3481738013 - Nephropathy, deafness, hyperparathyroidism syndrome (en) View
3481738013	en	Synonym (core metadata concept)	Nephropathy, deafness, hyperparathyroidism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3481737015 - Nephropathy, deafness, hyperparathyroidism syndrome (disorder) (en) View
3481737015	en	Fully specified name (core metadata concept)	Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6874216026) - 724093004 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091767027) - 724093004 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374448028) - 724093004 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16378177028) - 724093004 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13712327028) - 724093004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13712330024) - 724093004 -> 441915005 (363714003) View
363714003 \|Interprets (attribute)\|	441915005 \|Measurement of renal function (procedure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15457743023) - 724093004 -> 11953005 (363714003) View
363714003 \|Interprets (attribute)\|	11953005 \|Renal function (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15457744028) - 724093004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874222024) - 724093004 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874223025) - 724093004 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112509021) - 724093004 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112510027) - 724093004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730274023) - 724093004 -> 106176003 (116680003) View
116680003 \|Is a (attribute)\|	106176003 \|Endocrine finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13712324024) - 724093004 -> 76197007 (116676008) View
116676008 \|Associated morphology (attribute)\|	76197007 \|Hyperplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13712325020) - 724093004 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13712326021) - 724093004 -> 42399005 (116680003) View
116680003 \|Is a (attribute)\|	42399005 \|Renal failure syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13712328022) - 724093004 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13712329025) - 724093004 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874218025) - 724093004 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874220027) - 724093004 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874221028) - 724093004 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874219022) - 724093004 -> 83649006 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	83649006 \|Increased hormone secretion (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9287115025) - 724093004 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9287116029) - 724093004 -> 60877009 (363714003) View
363714003 \|Interprets (attribute)\|	60877009 \|Hormone secretion, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874212029) - 724093004 -> 9092004 (116680003) View
116680003 \|Is a (attribute)\|	9092004 \|Parathyroid hyperplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874213023) - 724093004 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874214028) - 724093004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874215027) - 724093004 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874217024) - 724093004 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	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
9092004 View
9092004	Parathyroid hyperplasia (disorder)	Parathyroid hyperplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
42399005 View
42399005	Renal failure syndrome (disorder)	Renal failure	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60700002 View
60700002	Sensorineural hearing loss (disorder)	Mất thính giác	900000000000074008 \|Necessary but not sufficient concept 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
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (194de27a-aaee-5067-9493-eff05a57dbbc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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