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Terminology chevron_right Concepts chevron_right 784391002

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784391002
The component that hold information about this concept.
Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
Finkel disease
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 adult-onset proximal spinal muscular atrophy (disorder)

SCTID: 784391002, Primitive, Active


784391002|Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)|
  • en Autosomal dominant adult-onset proximal spinal muscular atrophy
  • en Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
  • en Autosomal dominant late-onset spinal muscular atrophy finkel type
  • en Finkel disease
  • en Smafk - spinal muscular atrophy finkel type

784391002 |Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)|

<<< 5262007 |Spinal muscular atrophy (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| :
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 41847000 |Adulthood (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
Active

3764267012 - Autosomal dominant adult-onset proximal spinal muscular atrophy (en) View

3764267012
en
Synonym (core metadata concept)
Autosomal dominant adult-onset proximal spinal muscular atrophy
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3764269010 - Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) (en) View

3764269010
en
Fully specified name (core metadata concept)
Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3764266015 - Autosomal dominant late-onset spinal muscular atrophy Finkel type (en) View

3764266015
en
Synonym (core metadata concept)
Autosomal dominant late-onset spinal muscular atrophy Finkel type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3764268019 - Finkel disease (en) View

3764268019
en
Synonym (core metadata concept)
Finkel disease
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3764270011 - SMAFK - spinal muscular atrophy Finkel type (en) View

3764270011
en
Synonym (core metadata concept)
SMAFK - spinal muscular atrophy Finkel type
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5262007 View

5262007
Spinal muscular atrophy (disorder)
Spinal muscular atrophy
900000000000074008 |Necessary but not sufficient concept definition status (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

ExtendedMap object (dcd5166d-c7f8-5453-969e-738f4efcb615) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G12.1
TRUE
ALWAYS G12.1 | 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)|
esc