Scholte syndrome   722002002

SNOMED CT code


SNOMED code722002002
nameScholte syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
synonyms
  • Intellectual disability, balding, patella luxation, acromicria syndrome
  • Scholte Begeer-van Essen syndrome
  • Scholte syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of extremity   48566001
Associated morphologyDysplasia   25723000
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteGonadal endocrine structure   304041004
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyCongenital absence   24216005
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
parents
  • Skeletal dysplasia   105986008
  • Intellectual disability   110359009
  • X-linked hereditary disease   128430005
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital alopecia   2965006
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Hypogonadism   48130008
  • Congenital anomaly of skeletal bone   8447006
  • Dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of musculoskeletal system   73573004
            Skeletal dysplasia   105986008
              Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Intellectual disability   110359009
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Congenital anomaly of limb   60475009
            Multiple malformation syndrome with facial-limb defects as major feature   23359005
              Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Integumentary system finding   106077005
        Skin finding   106076001
          Disorder of skin   95320005
            Aplasia of skin   254237003
              Congenital alopecia   2965006
                Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Hereditary disorder of endocrine system   363104002
          Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Integumentary system finding   106077005
        Disorder of integument   128598002
          Hereditary disorder of the integument   363185004
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Musculoskeletal finding   106028002
        Disorder of musculoskeletal system   928000
          Hereditary disorder of musculoskeletal system   363212003
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary disorder by system   363137000
            Reproductive system hereditary disorder   363290007
              Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of endocrine system   362969004
            Disorder of endocrine gonad   127345001
              Hypogonadism   48130008
                Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Dysplasia of limb   88631000119105
            Scholte syndrome   722002002

ancestors
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