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Terminology chevron_right Concepts chevron_right 721233005

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721233005
The component that hold information about this concept.
Hypergonadotropic hypogonadism with cataract syndrome (disorder)
Lubinsky syndrome
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

Hypergonadotropic hypogonadism with cataract syndrome (disorder)

SCTID: 721233005, Primitive, Active


721233005|Hypergonadotropic hypogonadism with cataract syndrome (disorder)|
  • en Cataract and testicular failure syndrome
  • en Hypergonadotropic hypogonadism with cataract syndrome
  • en Hypergonadotropic hypogonadism with cataract syndrome (disorder)
  • en Lubinsky syndrome

721233005 |Hypergonadotropic hypogonadism with cataract syndrome (disorder)|

<<< 79410001 |Congenital cataract (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363104002 |Hereditary disorder of endocrine system (disorder)| +
    363290007 |Reproductive system hereditary disorder (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    370999003 |Primary hypogonadism (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3324721018 - Cataract and testicular failure syndrome (en) View

3324721018
en
Synonym (core metadata concept)
Cataract and testicular failure syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3324719011 - Hypergonadotropic hypogonadism with cataract syndrome (en) View

3324719011
en
Synonym (core metadata concept)
Hypergonadotropic hypogonadism with cataract syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3324718015 - Hypergonadotropic hypogonadism with cataract syndrome (disorder) (en) View

3324718015
en
Fully specified name (core metadata concept)
Hypergonadotropic hypogonadism with cataract syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3324720017 - Lubinsky syndrome (en) View

3324720017
en
Synonym (core metadata concept)
Lubinsky syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (13069320023) - 721233005 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10750898020) - 721233005 -> 128306009 (116676008) View

116676008 |Associated morphology (attribute)|
128306009 |Cataract (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11343174024) - 721233005 -> 128305008 (116676008) View

116676008 |Associated morphology (attribute)|
128305008 |Abnormally opaque structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762573025) - 721233005 -> 609587005 (116676008) View

116676008 |Associated morphology (attribute)|
609587005 |Congenital cataract (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6762575021) - 721233005 -> 78076003 (363698007) View

363698007 |Finding site (attribute)|
78076003 |Structure of lens of eye (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6762576022) - 721233005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6762577029) - 721233005 -> 304041004 (363698007) View

363698007 |Finding site (attribute)|
304041004 |Gonadal endocrine structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6767571021) - 721233005 -> 304041004 (363698007) View

363698007 |Finding site (attribute)|
304041004 |Gonadal endocrine structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518963020) - 721233005 -> 78076003 (363698007) View

363698007 |Finding site (attribute)|
78076003 |Structure of lens of eye (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518965029) - 721233005 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10518966028) - 721233005 -> 255399007 (246454002) View

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

Relationship (10518967021) - 721233005 -> 308490002 (370135005) View

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

Relationship (6762567026) - 721233005 -> 79410001 (116680003) View

116680003 |Is a (attribute)|
79410001 |Congenital cataract (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762568020) - 721233005 -> 85995004 (116680003) View

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

Relationship (6762569028) - 721233005 -> 363104002 (116680003) View

116680003 |Is a (attribute)|
363104002 |Hereditary disorder of endocrine system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762570027) - 721233005 -> 363290007 (116680003) View

116680003 |Is a (attribute)|
363290007 |Reproductive system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762571028) - 721233005 -> 363343008 (116680003) View

116680003 |Is a (attribute)|
363343008 |Hereditary disorder of the visual system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762572024) - 721233005 -> 370999003 (116680003) View

116680003 |Is a (attribute)|
370999003 |Primary hypogonadism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6762574020) - 721233005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

370999003 View

370999003
Primary hypogonadism (disorder)
Primary hypogonadism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

79410001 View

79410001
Congenital cataract (disorder)
Congenital cataract
900000000000073002 |Sufficiently defined by necessary conditions 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

363104002 View

363104002
Hereditary disorder of endocrine system (disorder)
Hereditary disorder of endocrine system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363290007 View

363290007
Reproductive system hereditary disorder (disorder)
Reproductive system hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363343008 View

363343008
Hereditary disorder of the visual system (disorder)
Hereditary disorder of the visual system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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