Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

SNOMED CT code


SNOMED code723554006
nameAplasia cutis congenita with epibulbar dermoid syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)
synonyms
  • Oculoectodermal syndrome
  • Toriello Lacassie Droste syndrome
  • Aplasia cutis congenita with epibulbar dermoid syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
Associated morphologyDermoid cyst   123151001
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAplasia   45486003
OccurrenceCongenital   255399007
Finding siteSkin part   119181002
parents
  • Autosomal hereditary disorder   1899006
  • Aplasia cutis congenita   35484002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of the visual system   363343008
  • Dermoid cyst of eye proper   830036006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

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
            Aplasia cutis congenita   35484002
              Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Cyst   441457006
        Dermoid cyst   419952004
          Dermoid cyst of head   830014008
            Dermoid cyst of eye proper   830036006
              Aplasia cutis congenita with epibulbar dermoid syndrome   723554006

ancestors
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