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Terminology chevron_right Concepts chevron_right 68295002

Production

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Language with ID “8ab977d3-e69e-52e1-8e2f-ac024bbddba4” doesn’t exist. Perhaps it was deleted?

Component

68295002

The component that hold information about this concept.

Fully Specified Name (FSN)

Vitamin d-dependent rickets (disorder)

Shortest Term

Vddr

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

Vitamin d-dependent rickets (disorder)

SCTID: 68295002, Primitive, Active

68295002|Vitamin d-dependent rickets (disorder)|

en Vddr - vitamin d-dependent rickets
en Vitamin d-dependent rickets
en Vitamin d-dependent rickets (disorder)

Expression

68295002 |Vitamin d-dependent rickets (disorder)|
 <<< 41345002 |Rickets (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 39365008 |Osteoid tissue (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260372006 |Deficient (qualifier value)|,
363714003 |Interprets (attribute)| = 128417009 |Physiologic mineralization of bone, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 711190000 |Structure of epiphyseal plate (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
113446015 - VDDR (en) View
113446015	en	Synonym (core metadata concept)	VDDR	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
500981013 - VDDRI - Vitamin D-dependent rickets (en) View
500981013	en	Synonym (core metadata concept)	VDDRI - Vitamin D-dependent rickets	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244241019 - VDDR - vitamin D-dependent rickets (en) View
5244241019	en	Synonym (core metadata concept)	VDDR - vitamin D-dependent rickets	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
113445016 - Active rickets (en) View
113445016	en	Synonym (core metadata concept)	Active rickets	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
113443011 - Vitamin D-dependent rickets (en) View
113443011	en	Synonym (core metadata concept)	Vitamin D-dependent rickets	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
808114014 - Vitamin D-dependent rickets (disorder) (en) View
808114014	en	Fully specified name (core metadata concept)	Vitamin D-dependent rickets (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
113444017 - Vitamin D-dependent rickets, NOS (en) View
113444017	en	Synonym (core metadata concept)	Vitamin D-dependent rickets, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13909787020) - 68295002 -> 711190000 (363698007) View
363698007 \|Finding site (attribute)\|	711190000 \|Structure of epiphyseal plate (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909788026) - 68295002 -> 128417009 (363714003) View
363714003 \|Interprets (attribute)\|	128417009 \|Physiologic mineralization of bone, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909789023) - 68295002 -> 260372006 (363713009) View
363713009 \|Has interpretation (attribute)\|	260372006 \|Deficient (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (844479021) - 68295002 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7187438021) - 68295002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7187439029) - 68295002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (259172023) - 68295002 -> 82236004 (116680003) View
116680003 \|Is a (attribute)\|	82236004 \|Familial x-linked hypophosphatemic vitamin d refractory rickets (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (844473022) - 68295002 -> 34058006 (116676008) View
116676008 \|Associated morphology (attribute)\|	34058006 \|Bowing deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (844475026) - 68295002 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (844482027) - 68295002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1775423029) - 68295002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2549990025) - 68295002 -> 41345002 (116680003) View
116680003 \|Is a (attribute)\|	41345002 \|Rickets (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (844474027) - 68295002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (844478029) - 68295002 -> 61496007 (363698007) View
363698007 \|Finding site (attribute)\|	61496007 \|Cartilaginous tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (540441024) - 68295002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (540445026) - 68295002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
41345002 View
41345002	Rickets (disorder)	Rickets	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
67049004 View
67049004	Vitamin d-dependent rickets, type 1 (disorder)	Vddri	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
72831007 View
72831007	Vitamin d-dependent rickets, type 2 (disorder)	Calcitriol receptor defect	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 (11844bee-e4d3-5600-a83e-bc20444a72f5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E83.3	TRUE	ALWAYS E83.3	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 (9a915cca-d924-5656-813f-b54e623fe080) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	L65.8	IFA 237894002 \| Vitamin D-dependent rickets type II with alopecia (disorder) \|	IF VITAMIN D-DEPENDENT RICKETS TYPE II WITH ALOPECIA CHOOSE L65.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (b7d86fa7-2177-5c77-97b1-e32ff78313b8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (f8662466-13c1-5d0e-a638-28336430c6e8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M90.89	TRUE	ALWAYS M90.89 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE	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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