Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT code


SNOMED code723364003
nameHypotrichosis with juvenile macular degeneration syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Hypotrichosis with juvenile macular degeneration syndrome (disorder)
synonyms
  • Hypotrichosis with juvenile macular degeneration syndrome
  • HJMD (hypotrichosis, juvenile macular degeneration) syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
Associated morphologyHypoplasia   55199003
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteMacula lutea structure   82859000
Associated morphologyDegenerative abnormality   107669003
parents
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of the visual system   363343008
  • Degenerative disorder of macula   422338006
  • Congenital hypotrichia   56558005
  • Autosomal recessive hereditary disorder   85995004
  • Ectodermal dysplasia   8654005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Macula finding   247143009
            Macular disorder   312999006
              Degenerative disorder of macula   422338006
                Hypotrichosis with juvenile macular degeneration syndrome   723364003

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 hypotrichia   56558005
                Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypotrichosis with juvenile macular degeneration syndrome   723364003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Hypotrichosis with juvenile macular degeneration syndrome   723364003

ancestors
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