Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

SNOMED CT code


SNOMED code766870005
nameEpiphyseal dysplasia, hearing loss, dysmorphism syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
synonyms
  • Finucane Kurtz Scott syndrome
  • Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteStructure of epiphysis   43719000
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group6
Clinical courseProgressive   255314001
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group5
InterpretsHearing   47078008
parents
  • Intellectual disability   110359009
  • Chronic deafness   232325008
  • Hearing loss associated with syndrome   232333009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Epiphyseal dysplasia   254080004
  • Congenital sensorineural hearing loss   700453005
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
          Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of ear   128297008
          Chronic deafness   232325008
            Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

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
            Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Epiphyseal dysplasia   254080004
            Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Epiphyseal dysplasia, hearing loss, dysmorphism syndrome   766870005

ancestors
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