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Terminology chevron_right Concepts chevron_right 254176007

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Component

254176007

The component that hold information about this concept.

Fully Specified Name (FSN)

Progressive recessive dystrophic epidermolysis bullosa (disorder)

Shortest Term

Ebr 3

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

Progressive recessive dystrophic epidermolysis bullosa (disorder)

SCTID: 254176007, Primitive, Active

254176007|Progressive recessive dystrophic epidermolysis bullosa (disorder)|

en Epidermolysis bullosa dystrophica neurotrophica
en Progressive recessive dystrophic epidermolysis bullosa
en Progressive recessive dystrophic epidermolysis bullosa (disorder)
en Ebr 3
en Goldscheider disease
en Goldscheider's disease

Expression

254176007 |Progressive recessive dystrophic epidermolysis bullosa (disorder)|
 <<< 48528004 |Recessive dystrophic epidermolysis bullosa (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 85269007 |Epidermolysis (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2841702010 - Epidermolysis bullosa dystrophica neurotrophica (en) View
2841702010	en	Synonym (core metadata concept)	Epidermolysis bullosa dystrophica neurotrophica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2840892016 - Progressive recessive dystrophic epidermolysis bullosa (en) View
2840892016	en	Synonym (core metadata concept)	Progressive recessive dystrophic epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2836338015 - Progressive recessive dystrophic epidermolysis bullosa (disorder) (en) View
2836338015	en	Fully specified name (core metadata concept)	Progressive recessive dystrophic epidermolysis bullosa (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2837219019 - EBR 3 (en) View
2837219019	en	Synonym (core metadata concept)	EBR 3	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2837220013 - Goldscheider disease (en) View
2837220013	en	Synonym (core metadata concept)	Goldscheider disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
645030018 - Goldscheider's disease (disorder) (en) View
645030018	en	Fully specified name (core metadata concept)	Goldscheider's disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
378361018 - Goldscheider's disease (en) View
378361018	en	Synonym (core metadata concept)	Goldscheider's disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (997876025) - 254176007 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997879021) - 254176007 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997880024) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3093681023) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032056027) - 254176007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032057020) - 254176007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032058026) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520084028) - 254176007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520085027) - 254176007 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520086026) - 254176007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (997882027) - 254176007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1796065028) - 254176007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093680024) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (340776027) - 254176007 -> 61003004 (116680003) View
116680003 \|Is a (attribute)\|	61003004 \|Epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3641429026) - 254176007 -> 48528004 (116680003) View
116680003 \|Is a (attribute)\|	48528004 \|Recessive dystrophic epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2979406025) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979407023) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914518021) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914519029) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821615025) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821616029) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674639024) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674640021) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2524171026) - 254176007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997877023) - 254176007 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997881023) - 254176007 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997878029) - 254176007 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (997883021) - 254176007 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
48528004 View
48528004	Recessive dystrophic epidermolysis bullosa (disorder)	Polydysplastic epidermolysis bullosa	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 (e187a485-8358-5178-9856-29434a179250) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q81.2	TRUE	ALWAYS Q81.2	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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