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

Retinitis pigmentosa  28835009

Autosomal recessive retinitis pigmentosa   232053004

SNOMED CT code


SNOMED code232053004
nameAutosomal recessive retinitis pigmentosa
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal recessive retinitis pigmentosa (disorder)
synonymsAutosomal recessive retinitis pigmentosa
attributes - group1
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
parents
  • Retinitis pigmentosa   28835009
  • Autosomal recessive hereditary disorder   85995004
children
  • Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome   771476007
  • Autosomal recessive posterior column ataxia and retinitis pigmentosa   724065003
  • Cleft lip retinopathy syndrome   732247000
  • Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome   778021002
  • Oculotrichodysplasia   722062004
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome   723452007
  • Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002
  • Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome   1172605003
  • Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome   724001005
  • Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome   1220597000
  • Retinitis pigmentosa-deafness syndrome   57838006
  • RHYNS syndrome   723999009
  • Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome   723621000
hierarchies
a selection of possible paths
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
            Retinitis pigmentosa   28835009
              Autosomal recessive retinitis pigmentosa   232053004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive retinitis pigmentosa   232053004

ancestors
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