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Terminology chevron_right Concepts chevron_right 725050005

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725050005
The component that hold information about this concept.
Autosomal dominant osteopetrosis type 2 (disorder)
Albers schonberg osteopetrosis
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 2 (disorder)

SCTID: 725050005, Primitive, Active


725050005|Autosomal dominant osteopetrosis type 2 (disorder)|
  • en Albers schonberg osteopetrosis
  • en Autosomal dominant osteopetrosis type 2
  • en Autosomal dominant osteopetrosis type 2 (disorder)

725050005 |Autosomal dominant osteopetrosis type 2 (disorder)|

<<< 1926006 |Osteopetrosis (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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

3437500016 - Albers Schonberg osteopetrosis (en) View

3437500016
en
Synonym (core metadata concept)
Albers Schonberg osteopetrosis
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3437499013 - Autosomal dominant osteopetrosis type 2 (en) View

3437499013
en
Synonym (core metadata concept)
Autosomal dominant osteopetrosis type 2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3437498017 - Autosomal dominant osteopetrosis type 2 (disorder) (en) View

3437498017
en
Fully specified name (core metadata concept)
Autosomal dominant osteopetrosis type 2 (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (6874750020) - 725050005 -> 363212003 (116680003) View

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

Relationship (11285981026) - 725050005 -> 281300000 (363713009) View

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

Relationship (11285982022) - 725050005 -> 43857005 (363714003) View

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

Relationship (11570696025) - 725050005 -> 255314001 (263502005) View

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

Relationship (6874749020) - 725050005 -> 363045008 (116680003) View

116680003 |Is a (attribute)|
363045008 |Connective tissue hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6874751024) - 725050005 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10532522020) - 725050005 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10532523026) - 725050005 -> 308490002 (370135005) View

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

Relationship (6874747022) - 725050005 -> 1926006 (116680003) View

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

Relationship (6874748028) - 725050005 -> 11164009 (116680003) View

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

Relationship (6874752028) - 725050005 -> 255399007 (246454002) View

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

Relationship (6874753022) - 725050005 -> 272673000 (363698007) View

363698007 |Finding site (attribute)|
272673000 |Bone structure (body structure)|
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

ExtendedMap object (8e89f6e2-12f3-5aa0-add9-b9d0bb3e4bdd) 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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