Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT code


SNOMED code723309006
nameEndocrine-cerebro-osteodysplasia syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Endocrine-cerebro-osteodysplasia syndrome (disorder)
synonyms
  • Endocrine-cerebro-osteodysplasia syndrome
  • ECO syndrome
  • ECO (endocrine-cerebro-osteodysplasia) syndrome
  • Endocrine cerebroosteodysplasia syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteCerebrum   83678007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteEndocrine structure   113331007
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of extremity   48566001
Associated morphologyDysplasia   25723000
parents
  • Dysostosis   109420003
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Congenital anomaly of cerebrum   702628006
  • Autosomal recessive hereditary disorder   85995004
  • Congenital dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Endocrine-cerebro-osteodysplasia syndrome   723309006

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
            Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Endocrine-cerebro-osteodysplasia syndrome   723309006

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
            Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            Congenital anomaly of cerebrum   702628006
              Endocrine-cerebro-osteodysplasia syndrome   723309006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Endocrine-cerebro-osteodysplasia syndrome   723309006

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
            Endocrine-cerebro-osteodysplasia syndrome   723309006

ancestors
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