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Terminology chevron_right Concepts chevron_right 72831007

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Component

72831007

The component that hold information about this concept.

Fully Specified Name (FSN)

Vitamin d-dependent rickets, type 2 (disorder)

Shortest Term

Calcitriol receptor defect

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, type 2 (disorder)

SCTID: 72831007, Primitive, Active

72831007|Vitamin d-dependent rickets, type 2 (disorder)|

en Calcitriol receptor defect
en End organ unresponsiveness to 1,25-dihydroxycholecalciferol
en Type 2 vitamin d-dependent rickets
en Vitamin d-dependent rickets, type 2
en Vitamin d-dependent rickets, type 2 (disorder)
en Vitamin d-dependent rickets type ii

Expression

72831007 |Vitamin d-dependent rickets, type 2 (disorder)|
 <<< 66091009 |Congenital disease (disorder)| + 
68295002 |Vitamin d-dependent rickets (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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
120974015 - Calcitriol receptor defect (en) View
120974015	en	Synonym (core metadata concept)	Calcitriol receptor defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
502252011 - End organ unresponsiveness to 1,25-dihydroxycholecalciferol (en) View
502252011	en	Synonym (core metadata concept)	End organ unresponsiveness to 1,25-dihydroxycholecalciferol	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
502250015 - Type 2 vitamin D-dependent rickets (en) View
502250015	en	Synonym (core metadata concept)	Type 2 vitamin D-dependent rickets	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
120973014 - Vitamin D-dependent rickets, type 2 (en) View
120973014	en	Synonym (core metadata concept)	Vitamin D-dependent rickets, type 2	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
813152016 - Vitamin D-dependent rickets, type 2 (disorder) (en) View
813152016	en	Fully specified name (core metadata concept)	Vitamin D-dependent rickets, type 2 (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
502251016 - Vitamin D-dependent rickets type II (en) View
502251016	en	Synonym (core metadata concept)	Vitamin D-dependent rickets type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13909793028) - 72831007 -> 711190000 (363698007) View
363698007 \|Finding site (attribute)\|	711190000 \|Structure of epiphyseal plate (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909794023) - 72831007 -> 128417009 (363714003) View
363714003 \|Interprets (attribute)\|	128417009 \|Physiologic mineralization of bone, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13909795024) - 72831007 -> 260372006 (363713009) View
363713009 \|Has interpretation (attribute)\|	260372006 \|Deficient (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (855448024) - 72831007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3454634020) - 72831007 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3571284027) - 72831007 -> 363039000 (116680003) View
116680003 \|Is a (attribute)\|	363039000 \|Congenital connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981187026) - 72831007 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2550527028) - 72831007 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2550528022) - 72831007 -> 271084006 (116680003) View
116680003 \|Is a (attribute)\|	271084006 \|Deformity of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3324209028) - 72831007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3324210022) - 72831007 -> 34058006 (116676008) View
116676008 \|Associated morphology (attribute)\|	34058006 \|Bowing deformity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855443026) - 72831007 -> 39365008 (363698007) View
363698007 \|Finding site (attribute)\|	39365008 \|Osteoid tissue (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855447025) - 72831007 -> 34058006 (116676008) View
116676008 \|Associated morphology (attribute)\|	34058006 \|Bowing deformity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776895028) - 72831007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855450027) - 72831007 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855444021) - 72831007 -> 61496007 (363698007) View
363698007 \|Finding site (attribute)\|	61496007 \|Cartilaginous tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (855449027) - 72831007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (542238020) - 72831007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (542241027) - 72831007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (266507021) - 72831007 -> 68295002 (116680003) View
116680003 \|Is a (attribute)\|	68295002 \|Vitamin d-dependent rickets (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
68295002 View
68295002	Vitamin d-dependent rickets (disorder)	Vddr	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
237894002 View
237894002	Vitamin d-dependent rickets type ii with alopecia (disorder)	Rickets - alopecia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237895001 View
237895001	Vitamin d-dependent rickets type ii without alopecia (disorder)	Vddr iib - vitamin d-dependent rickets iib	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 (7746ac91-f451-5393-89dd-adff46adf7ae) 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)\|
ExtendedMap object (c0eec301-3489-55bf-b654-188d02bf2f8d) 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 (c47d0742-c6fb-5d23-9b89-935b3540e689) 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 (e88706ba-f873-5743-a3d6-632952a12be5) 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)\|

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