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Terminology chevron_right Concepts chevron_right 720601000

Production
  • Language with ID “38471d08-9a77-58a0-a19e-e6a67ef8f86f” doesn’t exist. Perhaps it was deleted?
The component that hold information about this concept.
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
Catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

SCTID: 720601000, Primitive, Active


720601000|Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)|
  • en Camptodactyly and tall stature with scoliosis and hearing loss syndrome
  • en Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
  • en Catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome

720601000 |Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)|

<<< 1899006 |Autosomal hereditary disorder (disorder)| +
    29271008 |Camptodactyly (disorder)| +
    41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| +
    109420003 |Dysostosis (disorder)| +
    232333009 |Hearing loss associated with syndrome (disorder)| +
    363212003 |Hereditary disorder of musculoskeletal system (disorder)| +
    20948006 |Congenital anomaly of finger (disorder)| +
    309463003 |Flexion deformity of hand (finding)| +
    299055007 |Finding of musculoskeletal structure of digit of hand (finding)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1230354001 |Congenital deformity of hand (disorder)| +
    788953003 |Hereditary hearing loss (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 788600005 |Fixed flexion deformity (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 310792004 |Musculoskeletal structure of digit of hand (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 7569003 |Finger structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (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)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
Active
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