Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002

SNOMED CT code


SNOMED code1220599002
namePseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
statusactive
date introduced2022-05-31
fully specified name(s)Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder)
synonyms
  • PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa
  • Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
attributes - group2
Finding siteSkin structure   39937001
attributes - group1
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
parents
  • Autosomal recessive retinitis pigmentosa   232053004
  • Hereditary disorder of the integument   363185004
  • Disorder due to abnormality of dermal elastin   402681005
hierarchies
a selection of possible paths
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
                Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Disorder of skin   95320005
          Disorder due to abnormality of dermal elastin   402681005
            Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002

ancestors
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