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Terminology chevron_right Concepts chevron_right 778068007

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Component

778068007

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive cutis laxa type 2b (disorder)

Shortest Term

Autosomal recessive cutis laxa type 2b

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

Autosomal recessive cutis laxa type 2b (disorder)

SCTID: 778068007, Primitive, Active

778068007|Autosomal recessive cutis laxa type 2b (disorder)|

en Arcl2b - autosomal recessive cutis laxa type 2b
en Autosomal recessive cutis laxa type 2b
en Autosomal recessive cutis laxa type 2b (disorder)
en Autosomal recessive cutis laxa type 2 progeroid type

Expression

778068007 |Autosomal recessive cutis laxa type 2b (disorder)|
 <<< 37800003 |Disorder of proline and/or hydroxyproline metabolism (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
199879009 |Congenital anomaly of skin (disorder)| + 
312225001 |Musculoskeletal and connective tissue disorder (disorder)| + 
254223007 |Cutis laxa, recessive, type ii (disorder)| + 
50279003 |Metabolic bone disease (disorder)| + 
254104009 |Dysplasia with decreased bone density (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 21793004 |Connective tissue structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 312681000 |Bone density scan (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3737621016 - ARCL2B - autosomal recessive cutis laxa type 2B (en) View
3737621016	en	Synonym (core metadata concept)	ARCL2B - autosomal recessive cutis laxa type 2B	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3737618018 - Autosomal recessive cutis laxa type 2B (en) View
3737618018	en	Synonym (core metadata concept)	Autosomal recessive cutis laxa type 2B	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3737619014 - Autosomal recessive cutis laxa type 2B (disorder) (en) View
3737619014	en	Fully specified name (core metadata concept)	Autosomal recessive cutis laxa type 2B (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3737620015 - Autosomal recessive cutis laxa type 2 progeroid type (en) View
3737620015	en	Synonym (core metadata concept)	Autosomal recessive cutis laxa type 2 progeroid type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10724482026) - 778068007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11176127025) - 778068007 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225624026) - 778068007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292697029) - 778068007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292698023) - 778068007 -> 312681000 (363714003) View
363714003 \|Interprets (attribute)\|	312681000 \|Bone density scan (procedure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292699026) - 778068007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292700025) - 778068007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292701026) - 778068007 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292702022) - 778068007 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724470024) - 778068007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724471023) - 778068007 -> 50279003 (116680003) View
116680003 \|Is a (attribute)\|	50279003 \|Metabolic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724472027) - 778068007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724473021) - 778068007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724474026) - 778068007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724475025) - 778068007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724476029) - 778068007 -> 254104009 (116680003) View
116680003 \|Is a (attribute)\|	254104009 \|Dysplasia with decreased bone density (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724477022) - 778068007 -> 37800003 (116680003) View
116680003 \|Is a (attribute)\|	37800003 \|Disorder of proline and/or hydroxyproline metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724478028) - 778068007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724479020) - 778068007 -> 254223007 (116680003) View
116680003 \|Is a (attribute)\|	254223007 \|Cutis laxa, recessive, type ii (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724480023) - 778068007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10724481022) - 778068007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11176128024) - 778068007 -> 312225001 (116680003) View
116680003 \|Is a (attribute)\|	312225001 \|Musculoskeletal and connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
254104009 View
254104009	Dysplasia with decreased bone density (disorder)	Dysplasia with decreased bone density	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
312225001 View
312225001	Musculoskeletal and connective tissue disorder (disorder)	Musculoskeletal and connective tissue disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
199879009 View
199879009	Congenital anomaly of skin (disorder)	Genodermatosis, nos	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37800003 View
37800003	Disorder of proline and/or hydroxyproline metabolism (disorder)	Iminoacidopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50279003 View
50279003	Metabolic bone disease (disorder)	Metabolic bone disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254223007 View
254223007	Cutis laxa, recessive, type ii (disorder)	Cutis laxa, recessive, type ii	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (921b016b-b9e6-5e1c-b5da-1bd8705dbc8e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8 \| 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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