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
Finding siteHair structure   386045008
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Skeletal dysplasia   105986008
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital alopecia   2965006
  • Developmental hereditary disorder   363070008
  • 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
  • Congenital dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        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
              X-linked recessive hereditary disease   1162976004
                Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   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
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Congenital alopecia   2965006
                Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Scholte syndrome   722002002

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Scholte syndrome   722002002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      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 of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Scholte syndrome   722002002

ancestors
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