Coffin-Lowry syndrome   15182000

SNOMED CT code


SNOMED code15182000
nameCoffin-Lowry syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Coffin-Lowry syndrome (disorder)
synonyms
  • CLS - Coffin-Lowry syndrome
  • Coffin-Lowry syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteSkeletal system structure   113192009
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHand structure   85562004
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group6
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
parents
  • Intellectual disability   110359009
  • Global developmental delay   224958001
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Short stature disorder   237836003
  • Congenital anomaly of hand   34111000
  • Congenital anomaly of musculoskeletal system   73573004
  • Genetic disease   782964007
  • Disorder of skeletal system   88230002
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
          Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Disorder of hand   118933004
            Congenital anomaly of hand   34111000
              Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Coffin-Lowry syndrome   15182000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Coffin-Lowry syndrome   15182000

ancestors
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