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Terminology chevron_right Concepts chevron_right 254188009

Production

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Language with ID “92a3a550-1415-59d2-9beb-dfd32242ea62” doesn’t exist. Perhaps it was deleted?

Component

254188009

The component that hold information about this concept.

Fully Specified Name (FSN)

Generalized dystrophic epidermolysis bullosa (disorder)

Shortest Term

Generalised dystrophic 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

Generalized dystrophic epidermolysis bullosa (disorder)

SCTID: 254188009, Primitive, Active

254188009|Generalized dystrophic epidermolysis bullosa (disorder)|

en Generalised dystrophic epidermolysis bullosa
en Generalized dystrophic epidermolysis bullosa
en Generalized dystrophic epidermolysis bullosa (disorder)

Expression

254188009 |Generalized dystrophic epidermolysis bullosa (disorder)|
 <<< 254185007 |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
378383019 - Generalised dystrophic epidermolysis bullosa (en) View
378383019	en	Synonym (core metadata concept)	Generalised dystrophic epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
378382012 - Generalized dystrophic epidermolysis bullosa (en) View
378382012	en	Synonym (core metadata concept)	Generalized dystrophic epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
645044012 - Generalized dystrophic epidermolysis bullosa (disorder) (en) View
645044012	en	Fully specified name (core metadata concept)	Generalized dystrophic 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 (579949029) - 254188009 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473158023) - 254188009 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473160020) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3093695021) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032432020) - 254188009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032433026) - 254188009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032434021) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530456020) - 254188009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530457027) - 254188009 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530458021) - 254188009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579952021) - 254188009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736433023) - 254188009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093694020) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979419026) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979420021) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914531027) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914532023) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821630023) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821631022) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674660029) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674661025) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2524256021) - 254188009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473157029) - 254188009 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473159026) - 254188009 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579944023) - 254188009 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579953027) - 254188009 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74305025) - 254188009 -> 254185007 (116680003) View
116680003 \|Is a (attribute)\|	254185007 \|Dystrophic epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
254185007 View
254185007	Dystrophic epidermolysis bullosa (disorder)	Dystrophic epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1231284001 View
1231284001	Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)	Ddeb (dominant dystrophic epidermolysis bullosa) intermediate	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723553000 View
723553000	Neonatal transient bullous dermolysis (disorder)	Neonatal transient bullous dermolysis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723716009 View
723716009	Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Severe generalised recessive dystrophic epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725407006 View
725407006	Recessive dystrophic epidermolysis bullosa non-hallopeau siemens type (disorder)	Rdeb-o - recessive dystrophic epidermolysis bullosa-generalised other	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403808006 View
403808006	Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Dystrophic epidermolysis bullosa generalisata mitis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403809003 View
403809003	Dystrophic epidermolysis bullosa inverse type (disorder)	Dystrophic epidermolysis bullosa inverse type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403810008 View
403810008	Epidermolysis bullosa pruriginosa (disorder)	Epidermolysis bullosa pruriginosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75875004 View
75875004	Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	Epidermolysis bullosa dystrophica, pasini type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254189001 View
254189001	Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)	Generalised recessive dystrophic epidermolysis bullosa mitis	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 (447fcb20-0089-54a7-812f-b90723827a08) 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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