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Terminology chevron_right Concepts chevron_right 1363509005

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1363509005
The component that hold information about this concept.
Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)
Mt-atp6 mitochondrial 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

Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)

SCTID: 1363509005, Primitive, Active


1363509005|Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)|
  • en Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease
  • en Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)
  • en Mt-atp6 mitochondrial disease

1363509005 |Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)|

<<< 1162975000 |Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)| +
    240096000 |Mitochondrial cytopathy (disorder)|
Active

5449367013 - Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (en) View

5449367013
en
Synonym (core metadata concept)
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5449368015 - Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (disorder) (en) View

5449368015
en
Fully specified name (core metadata concept)
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

5449369011 - MT-ATP6 mitochondrial disease (en) View

5449369011
en
Synonym (core metadata concept)
MT-ATP6 mitochondrial disease
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (16331814026) - 1363509005 -> 1162975000 (116680003) View

116680003 |Is a (attribute)|
1162975000 |Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16331815025) - 1363509005 -> 240096000 (116680003) View

116680003 |Is a (attribute)|
240096000 |Mitochondrial cytopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

1162975000 View

1162975000
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)
Maternally inherited mitochondrial disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

240096000 View

240096000
Mitochondrial cytopathy (disorder)
Mitochondrial disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

778048001 View

778048001
Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
Maternally-inherited spastic paraplegia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

237984008 View

237984008
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
Narp syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (94ff6c7b-231d-5b9c-824a-15cc30d20655) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8
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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