Roifman syndrome   773404000

SNOMED CT code


SNOMED code773404000
nameRoifman syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Roifman syndrome (disorder)
synonyms
  • Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome
  • Roifman syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group1
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processAbnormal immune process   769247005
OccurrenceCongenital   255399007
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Immuno-osseous dysplasia   254067002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of immune system   363138005
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Roifman syndrome   773404000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Immuno-osseous dysplasia   254067002
            Roifman syndrome   773404000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Roifman syndrome   773404000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Roifman syndrome   773404000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Roifman syndrome   773404000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Roifman syndrome   773404000

ancestors
sorted most to least specific
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