Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT code


SNOMED code783562005
nameSyndactyly, nystagmus syndrome due to 2q31.1 microduplication
statusactive
date introduced2019-07-31
fully specified name(s)Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)
synonyms
  • Syndactyly, nystagmus syndrome due to trisomy 2q31.1
  • Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
attributes - group2
Associated morphologyCongenital abnormal fusion   37764001
Finding siteDigit structure   82680008
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 2   113354003
Associated morphologyPartial trisomy   133849008
attributes - group3
OccurrenceCongenital   255399007
Finding siteEye region structure   371398005
attributes - group4
InterpretsOcular motility observable   31763002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Disorder of eye region   371409005
          Pendular nystagmus   35743001
            Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Syndactyly   373413006
              Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Trisomy and partial trisomy of autosome   270521004
            Partial trisomy of chromosome 2   726340005
              2q partial trisomy syndrome   5982001
                Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital nystagmus   64635004
          Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.