Amaurosis hypertrichosis syndrome   720983002

SNOMED CT code


SNOMED code720983002
nameAmaurosis hypertrichosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Amaurosis hypertrichosis syndrome (disorder)
synonymsAmaurosis hypertrichosis syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Associated morphologyGrowth alteration   57697001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
parents
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary retinal dystrophy   41799005
  • Congenital anomaly of retina   49381001
  • Congenital hypertrichosis   56797000
  • 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
          Amaurosis hypertrichosis syndrome   720983002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Amaurosis hypertrichosis syndrome   720983002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hereditary retinal dystrophy   41799005
            Amaurosis hypertrichosis syndrome   720983002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Congenital anomaly of retina   49381001
              Amaurosis hypertrichosis syndrome   720983002

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 hypertrichosis   56797000
                Amaurosis hypertrichosis syndrome   720983002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Amaurosis hypertrichosis syndrome   720983002

ancestors
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