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Terminology chevron_right Concepts chevron_right 1197052008

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  • Extended Map with ID “8a3d130d-e648-59ec-9f35-4cacdeae1f99” doesn’t exist. Perhaps it was deleted?
1197052008
The component that hold information about this concept.
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
Booth haworth dilling syndrome
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

Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)

SCTID: 1197052008, Primitive, Active


1197052008|Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)|
  • en Booth haworth dilling syndrome
  • en Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria
  • en Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
  • en Mitochondrial dna depletion syndrome encephalomyopathic form with methylmalonic aciduria
  • en Mitochondrial encephalomyopathy aminoacidopathy syndrome
  • en Mtdna (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria

1197052008 |Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)|

<<< 42393006 |Methylmalonic acidemia (disorder)| +
    765401006 |Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)| :
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4694738010 - Booth Haworth Dilling syndrome (en) View

4694738010
en
Synonym (core metadata concept)
Booth Haworth Dilling syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

4694734012 - Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (en) View

4694734012
en
Synonym (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4694733018 - Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) (en) View

4694733018
en
Fully specified name (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4694735013 - Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria (en) View

4694735013
en
Synonym (core metadata concept)
Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

4694736014 - Mitochondrial encephalomyopathy aminoacidopathy syndrome (en) View

4694736014
en
Synonym (core metadata concept)
Mitochondrial encephalomyopathy aminoacidopathy syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4694737017 - mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria (en) View

4694737017
en
Synonym (core metadata concept)
mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (15025442025) - 1197052008 -> 42393006 (116680003) View

116680003 |Is a (attribute)|
42393006 |Methylmalonic acidemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15025443024) - 1197052008 -> 765401006 (116680003) View

116680003 |Is a (attribute)|
765401006 |Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15025444029) - 1197052008 -> 255399007 (246454002) View

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

Relationship (15025445028) - 1197052008 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15025446027) - 1197052008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15025447020) - 1197052008 -> 127954009 (363698007) View

363698007 |Finding site (attribute)|
127954009 |Skeletal muscle structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

765401006 View

765401006
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)
Mitochondrial dna depletion syndrome encephalomyopathic form
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

42393006 View

42393006
Methylmalonic acidemia (disorder)
Methylmalonic acidemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (676f890d-4e9a-5f91-a9e2-1f4891c693f7) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G71.3
TRUE
ALWAYS G71.3 | 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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