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Terminology chevron_right Concepts chevron_right 1264041000

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1264041000
The component that hold information about this concept.
Autosomal dominant osteopetrosis type 1 (disorder)
Autosomal dominant osteopetrosis type 1
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 osteopetrosis type 1 (disorder)

SCTID: 1264041000, Primitive, Active


1264041000|Autosomal dominant osteopetrosis type 1 (disorder)|
  • en Autosomal dominant osteopetrosis type 1
  • en Autosomal dominant osteopetrosis type 1 (disorder)

1264041000 |Autosomal dominant osteopetrosis type 1 (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    1926006 |Osteopetrosis (disorder)| +
    49347007 |Osteosclerosis (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 37748009 |Bony sclerosis (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 43857005 |Osteoclast turnover rate (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
Active

5171029013 - Autosomal dominant osteopetrosis type 1 (en) View

5171029013
en
Synonym (core metadata concept)
Autosomal dominant osteopetrosis type 1
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5171030015 - Autosomal dominant osteopetrosis type 1 (disorder) (en) View

5171030015
en
Fully specified name (core metadata concept)
Autosomal dominant osteopetrosis type 1 (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (15505039025) - 1264041000 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505040028) - 1264041000 -> 1926006 (116680003) View

116680003 |Is a (attribute)|
1926006 |Osteopetrosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505041029) - 1264041000 -> 49347007 (116680003) View

116680003 |Is a (attribute)|
49347007 |Osteosclerosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505042020) - 1264041000 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505043026) - 1264041000 -> 43857005 (363714003) View

363714003 |Interprets (attribute)|
43857005 |Osteoclast turnover rate (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505044021) - 1264041000 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505045022) - 1264041000 -> 255399007 (246454002) View

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

Relationship (15505046023) - 1264041000 -> 272673000 (363698007) View

363698007 |Finding site (attribute)|
272673000 |Bone structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505047025) - 1264041000 -> 37748009 (116676008) View

116676008 |Associated morphology (attribute)|
37748009 |Bony sclerosis (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15505048024) - 1264041000 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1926006 View

1926006
Osteopetrosis (disorder)
Osteopetrosis
900000000000073002 |Sufficiently defined by necessary conditions 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

49347007 View

49347007
Osteosclerosis (disorder)
Osteosclerosis
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (7dd58263-70c3-59a3-9cc0-9a53d31dc7d0) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q78.2
TRUE
ALWAYS Q78.2 | 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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