Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome   715506001

SNOMED CT code


SNOMED code715506001
namePhocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
synonyms
  • Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
  • Stoll Lévy Francfort syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteExtremity part   120573002
Associated morphologyAbsence   418560003
attributes - group3
InterpretsHearing   47078008
Has interpretationDecreased   1250004
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteEar structure   117590005
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Partial congenital absence of limb   60220000
            Phocomelia   22841008
              Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome   715506001

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
              Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome   715506001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Congenital conductive hearing loss   737344003
            Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome   715506001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome   715506001

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