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Terminology chevron_right Concepts chevron_right 609572000

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Component

609572000

The component that hold information about this concept.

Fully Specified Name (FSN)

Maturity-onset diabetes of the young, type 5 (disorder)

Shortest Term

Mody5

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

Maturity-onset diabetes of the young, type 5 (disorder)

SCTID: 609572000, Primitive, Active

609572000|Maturity-onset diabetes of the young, type 5 (disorder)|

en Hnf1b (hnf1 homeobox b) monogenic diabetes mellitus
en Hnf1b-mody - hnf1 homeobox b maturity-onset diabetes of the young type 5
en Hnf1b monogenic diabetes mellitus
en Maturity-onset diabetes of the young, type 5
en Maturity-onset diabetes of the young, type 5 (disorder)
en Mody5 - maturity-onset diabetes of the young type 5
en Renal cysts and diabetes syndrome

Expression

609572000 |Maturity-onset diabetes of the young, type 5 (disorder)|
 <<< 609561005 |Maturity-onset diabetes of the young (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 113331007 |Structure of endocrine system (body structure)| }
        { 42752001 |Due to (attribute)| = 782964007 |Genetic disease (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4635911017 - HNF1B (HNF1 homeobox B) monogenic diabetes mellitus (en) View
4635911017	en	Synonym (core metadata concept)	HNF1B (HNF1 homeobox B) monogenic diabetes mellitus	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4635910016 - HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5 (en) View
4635910016	en	Synonym (core metadata concept)	HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4635912012 - HNF1B monogenic diabetes mellitus (en) View
4635912012	en	Synonym (core metadata concept)	HNF1B monogenic diabetes mellitus	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2967853015 - Maturity-onset diabetes of the young, type 5 (en) View
2967853015	en	Synonym (core metadata concept)	Maturity-onset diabetes of the young, type 5	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2967829014 - Maturity-onset diabetes of the young, type 5 (disorder) (en) View
2967829014	en	Fully specified name (core metadata concept)	Maturity-onset diabetes of the young, type 5 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2967874019 - MODY5 (en) View
2967874019	en	Synonym (core metadata concept)	MODY5	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3435008016 - MODY5 - maturity-onset diabetes of the young type 5 (en) View
3435008016	en	Synonym (core metadata concept)	MODY5 - maturity-onset diabetes of the young type 5	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3435009012 - Renal cysts and diabetes syndrome (en) View
3435009012	en	Synonym (core metadata concept)	Renal cysts and diabetes syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16418101025) - 609572000 -> 782964007 (42752001) View
42752001 \|Due to (attribute)\|	782964007 \|Genetic disease (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14019002028) - 609572000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14019003022) - 609572000 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4734116028) - 609572000 -> 113331007 (363698007) View
363698007 \|Finding site (attribute)\|	113331007 \|Structure of endocrine system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4734115029) - 609572000 -> 609561005 (116680003) View
116680003 \|Is a (attribute)\|	609561005 \|Maturity-onset diabetes of the young (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
609561005 View
609561005	Maturity-onset diabetes of the young (disorder)	Maturity-onset diabetes of the young	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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 (0858094c-7cd8-5c38-a3b4-8a2747bef91f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E11.9	TRUE	ALWAYS E11.9	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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