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Terminology chevron_right Concepts chevron_right 79855003

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Component

79855003

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital junctional epidermolysis bullosa (disorder)

Shortest Term

Epidermolysis bullosa hereditaria letalis

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

Congenital junctional epidermolysis bullosa (disorder)

SCTID: 79855003, Primitive, Active

79855003|Congenital junctional epidermolysis bullosa (disorder)|

en Congenital junctional epidermolysis bullosa
en Congenital junctional epidermolysis bullosa (disorder)
en Epidermolysis bullosa hereditaria letalis
en Epidermolysis bullosa, junctional herlitz-pearson type

Expression

79855003 |Congenital junctional epidermolysis bullosa (disorder)|
 <<< 399971009 |Junctional 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
132485010 - Congenital junctional epidermolysis bullosa (en) View
132485010	en	Synonym (core metadata concept)	Congenital junctional epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
820951013 - Congenital junctional epidermolysis bullosa (disorder) (en) View
820951013	en	Fully specified name (core metadata concept)	Congenital junctional epidermolysis bullosa (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
132487019 - Epidermolysis bullosa hereditaria letalis (en) View
132487019	en	Synonym (core metadata concept)	Epidermolysis bullosa hereditaria letalis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
132486011 - Epidermolysis bullosa, junctional Herlitz-Pearson type (en) View
132486011	en	Synonym (core metadata concept)	Epidermolysis bullosa, junctional Herlitz-Pearson type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (873422026) - 79855003 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (548634022) - 79855003 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (548637026) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3093560026) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032503020) - 79855003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032504025) - 79855003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032505029) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526446020) - 79855003 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526447027) - 79855003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526448021) - 79855003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (873431026) - 79855003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1779207020) - 79855003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093559020) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979209023) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979210029) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914313029) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914314024) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821409022) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821410028) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674407024) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674408025) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2523151027) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (548633027) - 79855003 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (548636024) - 79855003 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (277866028) - 79855003 -> 76905008 (116680003) View
116680003 \|Is a (attribute)\|	76905008 \|Junctional epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2231531026) - 79855003 -> 399971009 (116680003) View
116680003 \|Is a (attribute)\|	399971009 \|Junctional epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (873421022) - 79855003 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (873423020) - 79855003 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (873427021) - 79855003 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (873434023) - 79855003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
399971009 View
399971009	Junctional epidermolysis bullosa (disorder)	Junctional epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
722675000 View
722675000	Laryngo-onycho-cutaneous syndrome (disorder)	Loc syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
53748002 View
53748002	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome (disorder)	Epidermolysis bullosa letalis with pyloric atresia	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 (2ffce2cb-dda5-54ca-a21d-40c112897edc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q81.0	TRUE	ALWAYS Q81.0	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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