Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome   720495005

SNOMED CT code


SNOMED code720495005
nameAnophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)
synonyms
  • Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
  • Cassia Stocco dos Santos syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Developmental hereditary disorder   363070008
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome   720495005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome   720495005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome   720495005

ancestors
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