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 recessive hereditary disease  1162976004

Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008

SNOMED CT code


SNOMED code719282008
namePrimary ciliary dyskinesia and retinitis pigmentosa syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
synonymsPrimary ciliary dyskinesia and retinitis pigmentosa syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteRespiratory tract structure   321667001
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDystrophy   4720007
Finding siteRetinal structure   5665001
attributes - group4
Has interpretationImpaired   260379002
InterpretsMucociliary clearance   63533009
parents
  • X-linked recessive hereditary disease   1162976004
  • X-linked retinitis pigmentosa   232054005
  • Inherited mucociliary clearance defect   233661002
  • Developmental hereditary disorder   363070008
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 recessive hereditary disease   1162976004
                Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008

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
                Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Mucociliary clearance defect   233660001
        Inherited mucociliary clearance defect   233661002
          Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Primary ciliary dyskinesia and retinitis pigmentosa syndrome   719282008

ancestors
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