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Terminology chevron_right Concepts chevron_right 1231284001

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1231284001
The component that hold information about this concept.
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
Ddeb (dominant dystrophic epidermolysis bullosa) intermediate
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

Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)

SCTID: 1231284001, Primitive, Active


1231284001|Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)|
  • en Autosomal dominant generalised dystrophic epidermolysis bullosa
  • en Autosomal dominant generalized dystrophic epidermolysis bullosa
  • en Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
  • en Ddeb (dominant dystrophic epidermolysis bullosa) intermediate
  • en Generalised ddeb (generalised dystrophic epidermolysis bullosa)
  • en Generalized ddeb (generalized dystrophic epidermolysis bullosa)

1231284001 |Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    254188009 |Generalized 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)| }
Active

5072058013 - Autosomal dominant generalised dystrophic epidermolysis bullosa (en) View

5072058013
en
Synonym (core metadata concept)
Autosomal dominant generalised dystrophic epidermolysis bullosa
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5072057015 - Autosomal dominant generalized dystrophic epidermolysis bullosa (en) View

5072057015
en
Synonym (core metadata concept)
Autosomal dominant generalized dystrophic epidermolysis bullosa
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5072054010 - Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) (en) View

5072054010
en
Fully specified name (core metadata concept)
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5072061014 - DDEB (dominant dystrophic epidermolysis bullosa) intermediate (en) View

5072061014
en
Synonym (core metadata concept)
DDEB (dominant dystrophic epidermolysis bullosa) intermediate
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5072055011 - Generalised DDEB (generalised dystrophic epidermolysis bullosa) (en) View

5072055011
en
Synonym (core metadata concept)
Generalised DDEB (generalised dystrophic epidermolysis bullosa)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5072056012 - Generalized DDEB (generalized dystrophic epidermolysis bullosa) (en) View

5072056012
en
Synonym (core metadata concept)
Generalized DDEB (generalized dystrophic epidermolysis bullosa)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (15238180025) - 1231284001 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15238181026) - 1231284001 -> 254188009 (116680003) View

116680003 |Is a (attribute)|
254188009 |Generalized dystrophic epidermolysis bullosa (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15238182022) - 1231284001 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15238183028) - 1231284001 -> 39937001 (363698007) View

363698007 |Finding site (attribute)|
39937001 |Skin structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15238184023) - 1231284001 -> 85269007 (116676008) View

116676008 |Associated morphology (attribute)|
85269007 |Epidermolysis (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15238185024) - 1231284001 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept 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

ExtendedMap object (391304a2-1331-53fb-8a63-dae72c0efc01) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q81.2
TRUE
ALWAYS Q81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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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