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Terminology chevron_right Concepts chevron_right 61772003

Production
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61772003
The component that hold information about this concept.
Muscle phosphoglycerate mutase deficiency (disorder)
Phosphoglucomutase deficiency
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

Muscle phosphoglycerate mutase deficiency (disorder)

SCTID: 61772003, Primitive, Active


61772003|Muscle phosphoglycerate mutase deficiency (disorder)|
  • en Glycogen storage disease type x
  • en Gsd x - glycogen storage disease type x
  • en Muscle phosphoglycerate mutase deficiency
  • en Muscle phosphoglycerate mutase deficiency (disorder)
  • en Phosphoglucomutase deficiency

61772003 |Muscle phosphoglycerate mutase deficiency (disorder)|

<<< 363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    78548001 |Enzymopathy (disorder)| +
    29633007 |Glycogen storage disease (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 79984008 |Skeletal muscle system structure (body structure)| }
Active

5276502013 - Glycogen storage disease type X (en) View

5276502013
en
Synonym (core metadata concept)
Glycogen storage disease type X
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5276501018 - GSD X - glycogen storage disease type X (en) View

5276501018
en
Synonym (core metadata concept)
GSD X - glycogen storage disease type X
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

102654012 - Muscle phosphoglycerate mutase deficiency (en) View

102654012
en
Synonym (core metadata concept)
Muscle phosphoglycerate mutase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

800871013 - Muscle phosphoglycerate mutase deficiency (disorder) (en) View

800871013
en
Fully specified name (core metadata concept)
Muscle phosphoglycerate mutase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

102655013 - Phosphoglucomutase deficiency (en) View

102655013
en
Synonym (core metadata concept)
Phosphoglucomutase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (248548021) - 61772003 -> 20957000 (116680003) View

116680003 |Is a (attribute)|
20957000 |Disorder of carbohydrate metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (248549029) - 61772003 -> 86095007 (116680003) View

116680003 |Is a (attribute)|
86095007 |Inborn error of metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15779192024) - 61772003 -> 29633007 (116680003) View

116680003 |Is a (attribute)|
29633007 |Glycogen storage disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (827850023) - 61772003 -> 79984008 (363698007) View

363698007 |Finding site (attribute)|
79984008 |Skeletal muscle system structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (827851022) - 61772003 -> 255399007 (246454002) View

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

Relationship (248550029) - 61772003 -> 73573004 (116680003) View

116680003 |Is a (attribute)|
73573004 |Congenital anomaly of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (248545024) - 61772003 -> 363212003 (116680003) View

116680003 |Is a (attribute)|
363212003 |Hereditary disorder of musculoskeletal system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (248546020) - 61772003 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (248547027) - 61772003 -> 78548001 (116680003) View

116680003 |Is a (attribute)|
78548001 |Enzymopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

29633007 View

29633007
Glycogen storage disease (disorder)
Glycogenosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

78548001 View

78548001
Enzymopathy (disorder)
Enzymopathy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363212003 View

363212003
Hereditary disorder of musculoskeletal system (disorder)
Hereditary disorder of musculoskeletal system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (ba31d244-caad-5679-a15b-5a3167b90db7) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E74.0
TRUE
ALWAYS E74.0
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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