Revesz syndrome   723512008

SNOMED CT code


SNOMED code723512008
nameRevesz syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Revesz syndrome (disorder)
synonyms
  • Revesz syndrome
  • Dyskeratosis congenita with bilateral exudative retinopathy
  • Retinopathy, anemia, central nervous system anomalies syndrome
  • Retinopathy, anaemia, central nervous system anomalies syndrome
  • Revesz DeBuse syndrome
attributes - group5
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAplasia   45486003
Finding siteBone marrow structure   14016003
attributes - group7
Pathological processPathological developmental process   308490002
Associated morphologyDyskeratosis   2097009
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group6
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteRetinal structure   5665001
attributes - group11
Finding siteEctoderm structure   63206006
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group9
Has interpretationAbnormal   263654008
InterpretsHemostatic function   74848003
attributes - group8
Pathological processAbnormal immune process   769247005
attributes - group2
Has interpretationBelow reference range   281300000
InterpretsWhite blood cell count   767002
attributes - group3
Has interpretationBelow reference range   281300000
InterpretsPlatelet count   61928009
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsMeasurement of total hemoglobin concentration   441689006
attributes - group10
Due toDecreased erythrocyte production   18469004
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsRed blood cell count   14089001
parents
  • Inherited platelet disorder   234469001
  • Constitutional aplastic anemia   28975000
  • Retinal disorder   29555009
  • Hereditary disorder of the visual system   363343008
  • Hereditary white blood cell disorder   414395005
  • Autosomal dominant dyskeratosis congenita   707273001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Inherited platelet disorder   234469001
            Revesz syndrome   723512008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital anemia   63565007
          Constitutional aplastic anemia   28975000
            Revesz syndrome   723512008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Revesz syndrome   723512008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Revesz syndrome   723512008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Hereditary white blood cell disorder   414395005
            Revesz syndrome   723512008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Dyskeratosis congenita   74911008
            Autosomal dominant dyskeratosis congenita   707273001
              Revesz syndrome   723512008

ancestors
sorted most to least specific
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