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Terminology chevron_right Concepts chevron_right 719398004

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  • Language with ID “758549e9-3386-5089-9704-245ffe905a33” doesn’t exist. Perhaps it was deleted?
The component that hold information about this concept.
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
Froster iskenius waterson syndrome
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

SCTID: 719398004, Primitive, Active


719398004|Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)|
  • en Malignant hyperthermia with arthrogryposis and torticollis syndrome
  • en Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
  • en Froster iskenius waterson syndrome

719398004 |Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    70070008 |Torticollis (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    405501007 |Malignant hyperthermia (disorder)| +
    28204005 |Inherited arthrogryposis (disorder)| +
    89886004 |Congenital anomaly of skeletal muscle (disorder)| +
    40052002 |Congenital anomaly of neck (disorder)| +
    673791000119108 |Congenital deformity of soft tissue (disorder)| +
    205402004 |Arthrogryposis multiplex congenita (disorder)| +
    1344689004 |Congenital deformity of musculoskeletal system (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 81727001 |Skeletal muscle structure of neck (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 386725007 |Body temperature (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
          363714003 |Interprets (attribute)| = 364564000 |Range of joint movement (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 785818007 |Structure of joint region (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 773190007 |Joint structure of multiple body sites (body structure)| }
Active
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