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Terminology chevron_right Concepts chevron_right 723453002

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723453002
The component that hold information about this concept.
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)
Phaver 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

Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)

SCTID: 723453002, Primitive, Active


723453002|Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)|
  • en Phaver (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome
  • en Phaver syndrome
  • en Powell chandra saal syndrome
  • en Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome
  • en Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)

723453002 |Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)|

<<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| +
    60475009 |Congenital anomaly of limb (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 66019005 |Limb structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3424685019 - PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome (en) View

3424685019
en
Synonym (core metadata concept)
PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3424684015 - PHAVER syndrome (en) View

3424684015
en
Synonym (core metadata concept)
PHAVER syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3424686018 - Powell Chandra Saal syndrome (en) View

3424686018
en
Synonym (core metadata concept)
Powell Chandra Saal syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3424683014 - Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (en) View

3424683014
en
Synonym (core metadata concept)
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3424682016 - Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) (en) View

3424682016
en
Fully specified name (core metadata concept)
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (13069429020) - 723453002 -> 363070008 (116680003) View

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

Relationship (6818228027) - 723453002 -> 21390004 (116676008) View

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

Relationship (10515962027) - 723453002 -> 308490002 (370135005) View

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

Relationship (10515963021) - 723453002 -> 49755003 (116676008) View

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

Relationship (6818225029) - 723453002 -> 41443008 (116680003) View

116680003 |Is a (attribute)|
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6818226028) - 723453002 -> 60475009 (116680003) View

116680003 |Is a (attribute)|
60475009 |Congenital anomaly of limb (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6818227021) - 723453002 -> 85995004 (116680003) View

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

Relationship (6818229024) - 723453002 -> 255399007 (246454002) View

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

Relationship (6818230025) - 723453002 -> 66019005 (363698007) View

363698007 |Finding site (attribute)|
66019005 |Limb 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

41443008 View

41443008
Multiple malformation syndrome with limb defect as major feature (disorder)
Multiple malformation syndrome with limb defect as major feature
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

60475009 View

60475009
Congenital anomaly of limb (disorder)
Congenital anomaly of limb
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

ExtendedMap object (4f8aea52-778a-5ae6-8c61-a68da608e7ab) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E79.8
TRUE
ALWAYS E79.8 | 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)|

ExtendedMap object (dcc5c311-ae69-53b3-8eeb-4fbac5e362f1) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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