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Terminology chevron_right Concepts chevron_right 399971009

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Component

399971009

The component that hold information about this concept.

Fully Specified Name (FSN)

Junctional epidermolysis bullosa (disorder)

Shortest Term

Junctional epidermolysis bullosa

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

Junctional epidermolysis bullosa (disorder)

SCTID: 399971009, Primitive, Active

399971009|Junctional epidermolysis bullosa (disorder)|

en Junctional epidermolysis bullosa
en Junctional epidermolysis bullosa (disorder)

Expression

399971009 |Junctional epidermolysis bullosa (disorder)|
 <<< 61003004 |Epidermolysis bullosa (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (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
1779250019 - Junctional epidermolysis bullosa (en) View
1779250019	en	Synonym (core metadata concept)	Junctional epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1767891015 - Junctional epidermolysis bullosa (disorder) (en) View
1767891015	en	Fully specified name (core metadata concept)	Junctional epidermolysis bullosa (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2284163026) - 399971009 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11281324023) - 399971009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5031893021) - 399971009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031894026) - 399971009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031895025) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522462028) - 399971009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522463022) - 399971009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2284160028) - 399971009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2284162020) - 399971009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3087502022) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2284164021) - 399971009 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3087501026) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2970003021) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2970004026) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2904855024) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2904856020) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2811787022) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2811788028) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2663517024) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2663518025) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2284161029) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2517443021) - 399971009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2284159022) - 399971009 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2284165022) - 399971009 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2245699026) - 399971009 -> 61003004 (116680003) View
116680003 \|Is a (attribute)\|	61003004 \|Epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
61003004 View
61003004	Epidermolysis bullosa (disorder)	Fox disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
724225008 View
724225008	Junctional epidermolysis bullosa non-herlitz type (disorder)	Junctional epidermolysis bullosa non-herlitz type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719432000 View
719432000	Late-onset junctional epidermolysis bullosa (disorder)	Late-onset junctional epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
79855003 View
79855003	Congenital junctional epidermolysis bullosa (disorder)	Epidermolysis bullosa hereditaria letalis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254191009 View
254191009	Localized junctional epidermolysis bullosa (disorder)	Localised junctional epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254194001 View
254194001	Generalized junctional epidermolysis bullosa (disorder)	Generalised junctional epidermolysis bullosa	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 (25af6a06-6ebb-5e34-8d5e-908025ddfe5c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q81.8	TRUE	ALWAYS Q81.8	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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