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Terminology chevron_right Concepts chevron_right 238078005

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238078005
The component that hold information about this concept.
Familial hypercholesterolemia - homozygous (disorder)
Familial homozygous hypercholesterolemia
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

Familial hypercholesterolemia - homozygous (disorder)

SCTID: 238078005, Primitive, Active


238078005|Familial hypercholesterolemia - homozygous (disorder)|
  • en Familial homozygous hypercholesterolaemia
  • en Familial homozygous hypercholesterolemia
  • en Familial hypercholesterolaemia - homozygous
  • en Familial hypercholesterolemia - homozygous
  • en Familial hypercholesterolemia - homozygous (disorder)

238078005 |Familial hypercholesterolemia - homozygous (disorder)|

<<< 398036000 |Familial hypercholesterolemia (disorder)| +
    1899006 |Autosomal hereditary disorder (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 412808005 |Serum total cholesterol measurement (procedure)| }
Active

3037302012 - Familial homozygous hypercholesterolaemia (en) View

3037302012
en
Synonym (core metadata concept)
Familial homozygous hypercholesterolaemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3037192013 - Familial homozygous hypercholesterolemia (en) View

3037192013
en
Synonym (core metadata concept)
Familial homozygous hypercholesterolemia
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

356872013 - Familial hypercholesterolaemia - homozygous (en) View

356872013
en
Synonym (core metadata concept)
Familial hypercholesterolaemia - homozygous
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

356871018 - Familial hypercholesterolemia - homozygous (en) View

356871018
en
Synonym (core metadata concept)
Familial hypercholesterolemia - homozygous
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

626911018 - Familial hypercholesterolemia - homozygous (disorder) (en) View

626911018
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia - homozygous (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16344604020) - 238078005 -> 1899006 (116680003) View

116680003 |Is a (attribute)|
1899006 |Autosomal hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3802396027) - 238078005 -> 166830008 (363705008) View

363705008 |Has definitional manifestation (attribute)|
166830008 |Serum cholesterol above reference range (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9358345029) - 238078005 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9534637022) - 238078005 -> 412808005 (363714003) View

363714003 |Interprets (attribute)|
412808005 |Serum total cholesterol measurement (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (527186023) - 238078005 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (53736028) - 238078005 -> 31654005 (116680003) View

116680003 |Is a (attribute)|
31654005 |Familial hypercholesterolemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2219808027) - 238078005 -> 398036000 (116680003) View

116680003 |Is a (attribute)|
398036000 |Familial hypercholesterolemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (527187025) - 238078005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

398036000 View

398036000
Familial hypercholesterolemia (disorder)
Ldl receptor disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1899006 View

1899006
Autosomal hereditary disorder (disorder)
Autosomal hereditary disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

403830007 View

403830007
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)
Familial hypercholesterolemia due to homozygous ldl receptor mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (45c4c96b-7d21-54c9-98d6-6952aaccd3b3) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E78.0
TRUE
ALWAYS E78.0
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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