Hereditary retinal dystrophy   41799005

SNOMED CT code


SNOMED code41799005
nameHereditary retinal dystrophy
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary retinal dystrophy (disorder)
synonymsHereditary retinal dystrophy
attributes - group1
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
parents
children
  • Aland Islands eye disease   725168006
  • Alstrom syndrome   63702009
  • Amaurosis hypertrichosis syndrome   720983002
  • Amelogenesis imperfecta co-occurrent with cone rod dystrophy   707608003
  • Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome   773583007
  • Autosomal dominant late-onset retinal degeneration   719431007
  • Autosomal dominant vitreoretinochoroidopathy   711162004
  • Autosomal recessive bestrophinopathy   723828008
  • Bietti's crystalline retinopathy   312927001
  • Bothnia retinal dystrophy   715647007
  • Cone dystrophy   312917007
  • Congenital stationary night blindness   232061009
  • Dominant drusen   193411004
  • Familial benign flecked retina   770434009
  • Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome   1172636006
  • Fundus albipunctatus   764939004
  • Hereditary macular dystrophy   276436007
  • Hereditary retinal dystrophies in lipidoses   193400007
  • Hereditary retinal dystrophies with other diseases   193401006  removed: 2010-01-31
  • Hereditary retinal dystrophy NOS   267615006  removed: 2010-01-31
  • Hereditary retinal dystrophy primarily involving retinal pigment epithelium   698847000
  • Hereditary retinal dystrophy primarily involving sensory retina   698848005
  • Hyaline dystrophy of Bruch's membrane   36524008
  • Hyaline retinal dystrophy   193409008
  • Juvenile retinoschisis   86923008
  • Kandori fleck retina syndrome   765191009
  • Leber's amaurosis   193413001
  • Macular retinoschisis   232013002
  • Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome   771342004
  • MORM syndrome   715628009
  • Oligocone trichromacy   722066001
  • Other pigmented retinal dystrophies   193403009  removed: 2010-01-31
  • Other retinal pigmented epithelial dystrophies   193408000  removed: 2010-01-31
  • Other sensory retinal dystrophy   193406001  removed: 2010-01-31
  • Other specified hereditary retinal dystrophy   193416009  removed: 2010-01-31
  • Pattern dystrophy of macula   232051002
  • Pigmentary retinal dystrophy   68222009  removed: 2018-07-31
  • Progressive bifocal chorioretinal atrophy   719266007
  • Progressive cone-rod dystrophy   80328002
  • Progressive retinal dystrophy due to retinol transport defect   773576000
  • Reticular dystrophy of retinal pigment epithelium   723502001
  • Retinal dystrophy in systemic lipidosis   15059000
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies   774152007
  • Retinitis pigmentosa   28835009
  • Retinitis punctata albescens   715562001
  • Rod dystrophy   313003009
  • Severe early childhood onset retinal dystrophy   716663009
  • Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome   719205008
  • Unspecified hereditary retinal dystrophies   193399000  removed: 2010-01-31
  • Vitreoretinal dystrophy   79556007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Degeneration of retina   95695004
            Retinal dystrophy   314407005
              Hereditary retinal dystrophy   41799005

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

ancestors
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