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Terminology chevron_right Concepts chevron_right 254189001

Production

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Language with ID “73b8d4e5-382d-5e17-aa2f-fa374d9e31b7” doesn’t exist. Perhaps it was deleted?

Component

254189001

The component that hold information about this concept.

Fully Specified Name (FSN)

Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)

Shortest Term

Generalised recessive dystrophic epidermolysis bullosa mitis

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 recessive dystrophic epidermolysis bullosa mitis (disorder)

SCTID: 254189001, Primitive, Active

254189001|Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)|

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

Expression

254189001 |Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)|
 <<< 254188009 |Generalized 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
378384013 - Generalised recessive dystrophic epidermolysis bullosa mitis (en) View
378384013	en	Synonym (core metadata concept)	Generalised recessive dystrophic epidermolysis bullosa mitis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
378385014 - Generalized recessive dystrophic epidermolysis bullosa mitis (en) View
378385014	en	Synonym (core metadata concept)	Generalized recessive dystrophic epidermolysis bullosa mitis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
645045013 - Generalized recessive dystrophic epidermolysis bullosa mitis (disorder) (en) View
645045013	en	Fully specified name (core metadata concept)	Generalized recessive dystrophic epidermolysis bullosa mitis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (579964029) - 254189001 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473162028) - 254189001 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473164027) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3092767022) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032016029) - 254189001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032017022) - 254189001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032018028) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531194024) - 254189001 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531195020) - 254189001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531196021) - 254189001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579960022) - 254189001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736434028) - 254189001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092766029) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2978016022) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2978017029) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2913090026) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2913091027) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820172027) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820173021) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2673085025) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2673086029) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2517389026) - 254189001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473161024) - 254189001 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473163022) - 254189001 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579959028) - 254189001 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579971023) - 254189001 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74306029) - 254189001 -> 254188009 (116680003) View
116680003 \|Is a (attribute)\|	254188009 \|Generalized dystrophic epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (74307022) - 254189001 -> 48528004 (116680003) View
116680003 \|Is a (attribute)\|	48528004 \|Recessive dystrophic epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

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
254188009 View
254188009	Generalized dystrophic epidermolysis bullosa (disorder)	Generalised 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (090a92e7-0117-5204-b017-693f5577ad56) 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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