dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 48528004

Production

add

Component

48528004

The component that hold information about this concept.

Fully Specified Name (FSN)

Recessive dystrophic epidermolysis bullosa (disorder)

Shortest Term

Polydysplastic epidermolysis bullosa

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Recessive dystrophic epidermolysis bullosa (disorder)

SCTID: 48528004, Defined, Active

48528004|Recessive dystrophic epidermolysis bullosa (disorder)|

en Dysplastic epidermolysis bullosa dystrophica
en Polydysplastic epidermolysis bullosa
en Recessive dystrophic epidermolysis bullosa
en Recessive dystrophic epidermolysis bullosa (disorder)

Expression

48528004 |Recessive dystrophic epidermolysis bullosa (disorder)|
 === 85995004 |Autosomal recessive hereditary disorder (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
80860019 - Dysplastic epidermolysis bullosa dystrophica (en) View
80860019	en	Synonym (core metadata concept)	Dysplastic epidermolysis bullosa dystrophica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
80861015 - Polydysplastic epidermolysis bullosa (en) View
80861015	en	Synonym (core metadata concept)	Polydysplastic epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
80859012 - Recessive dystrophic epidermolysis bullosa (en) View
80859012	en	Synonym (core metadata concept)	Recessive dystrophic epidermolysis bullosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
786106013 - Recessive dystrophic epidermolysis bullosa (disorder) (en) View
786106013	en	Fully specified name (core metadata concept)	Recessive 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 (793502021) - 48528004 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6828930024) - 48528004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6828931023) - 48528004 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793503027) - 48528004 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793507026) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3094070027) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031880027) - 48528004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031881028) - 48528004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031882024) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517579028) - 48528004 -> 85269007 (116676008) View
116676008 \|Associated morphology (attribute)\|	85269007 \|Epidermolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517580025) - 48528004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517581026) - 48528004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (227042022) - 48528004 -> 61003004 (116680003) View
116680003 \|Is a (attribute)\|	61003004 \|Epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6828928022) - 48528004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6828929025) - 48528004 -> 254185007 (116680003) View
116680003 \|Is a (attribute)\|	254185007 \|Dystrophic epidermolysis bullosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (793506024) - 48528004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768816020) - 48528004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094069028) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979967028) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979968022) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915087024) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915088025) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822193023) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822194028) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675270029) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675271025) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2526758024) - 48528004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793504022) - 48528004 -> 91196007 (116676008) View
116676008 \|Associated morphology (attribute)\|	91196007 \|Keratolysis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793505023) - 48528004 -> 339008 (116676008) View
116676008 \|Associated morphology (attribute)\|	339008 \|Blister (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793508020) - 48528004 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (793509028) - 48528004 -> 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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
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
725419003 View
725419003	Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	Centripetal recessive dystrophic epidermolysis bullosa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254176007 View
254176007	Progressive recessive dystrophic epidermolysis bullosa (disorder)	Ebr 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254187004 View
254187004	Localized recessive dystrophic epidermolysis bullosa (disorder)	Localised recessive dystrophic epidermolysis bullosa	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 (85ba73f4-8493-5a0b-9a8c-ac8453316f63) 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)\|

Terminology chevron_right Concepts chevron_right 48528004

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches