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Terminology chevron_right Concepts chevron_right 722439009

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722439009
The component that hold information about this concept.
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
Edict 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

Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)

SCTID: 722439009, Primitive, Active


722439009|Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)|
  • en Autosomal dominant keratoconus with early-onset anterior polar cataract
  • en Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
  • en Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
  • en Familial keratoconus with cataract
  • en Edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome
  • en Edict syndrome

722439009 |Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    429448005 |Congenital anomaly of anterior segment of eye (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 32259006 |Anterior eyeball segment structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3332083015 - Autosomal dominant keratoconus with early-onset anterior polar cataract (en) View

3332083015
en
Synonym (core metadata concept)
Autosomal dominant keratoconus with early-onset anterior polar cataract
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3332080017 - Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (en) View

3332080017
en
Synonym (core metadata concept)
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3332079015 - Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) (en) View

3332079015
en
Fully specified name (core metadata concept)
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3332084014 - Familial keratoconus with cataract (en) View

3332084014
en
Synonym (core metadata concept)
Familial keratoconus with cataract
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3332082013 - EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome (en) View

3332082013
en
Synonym (core metadata concept)
EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3332081018 - EDICT syndrome (en) View

3332081018
en
Synonym (core metadata concept)
EDICT syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (13069396023) - 722439009 -> 363070008 (116680003) View

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

Relationship (6791541026) - 722439009 -> 65075004 (116680003) View

116680003 |Is a (attribute)|
65075004 |Irido-corneal dysgenesis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12091556026) - 722439009 -> 429448005 (116680003) View

116680003 |Is a (attribute)|
429448005 |Congenital anomaly of anterior segment of eye (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6791543028) - 722439009 -> 21390004 (116676008) View

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

Relationship (10525066027) - 722439009 -> 49755003 (116676008) View

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

Relationship (10525067020) - 722439009 -> 308490002 (370135005) View

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

Relationship (6791540025) - 722439009 -> 11164009 (116680003) View

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

Relationship (6791542022) - 722439009 -> 363343008 (116680003) View

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

Relationship (6791544023) - 722439009 -> 255399007 (246454002) View

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

Relationship (6791545024) - 722439009 -> 32259006 (363698007) View

363698007 |Finding site (attribute)|
32259006 |Anterior eyeball segment structure (body structure)|
1
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

429448005 View

429448005
Congenital anomaly of anterior segment of eye (disorder)
Iridocorneal dysgenesis
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

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

ExtendedMap object (00faa312-6e24-5f5f-b245-7b2785662964) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
H18.6
TRUE
ALWAYS H18.6 | 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)|

ExtendedMap object (b9f20ef4-391d-5af1-9782-7ca31aad81f8) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q15.8
TRUE
ALWAYS Q15.8 | 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)|
esc