SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Sex-linked hereditary disorder  82852009

X-linked hereditary disease  128430005

X-linked retinitis pigmentosa   232054005

SNOMED CT code


SNOMED code232054005
nameX-linked retinitis pigmentosa
statusactive
date introduced2002-01-31
fully specified name(s)X-linked retinitis pigmentosa (disorder)
synonymsX-linked retinitis pigmentosa
attributes - group1
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
parents
children
  • Chromosome Xp11.3 microdeletion syndrome   719808002
  • Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008
  • X-linked retinitis pigmentosa heterozygote   232055006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked retinitis pigmentosa   232054005

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
              X-linked retinitis pigmentosa   232054005

ancestors
sorted most to least specific
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