Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT code


SNOMED code723611008
nameSplit hand, split foot malformation with sensorineural hearing loss syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)
synonyms
  • Congenital deafness with split hands and feet
  • Split hand, split foot malformation with sensorineural hearing loss syndrome
attributes - group3
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHand structure   85562004
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
Finding siteFoot structure   56459004
attributes - group4
Pathological processPathological developmental process   308490002
Finding siteEntire lesser toe   182308006
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
attributes - group5
Associated morphologyAbsence   418560003
Finding siteEntire finger   302541005
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group6
Finding siteAuditory structure   91159003
attributes - group7
InterpretsHearing   47078008
parents
  • Congenital cleft hand   13624003
  • Split foot   205358006
  • Hearing loss associated with syndrome   232333009
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Sensorineural hearing loss   60700002
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
            Adactyly   275348004
              Ectrodactyly   81208006
                Congenital cleft hand   13624003
                  Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Absence of lower limb   723722000
          Congenital absence of foot   371197005
            Congenital absence of toe   66345008
              Split foot   205358006
                Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

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
              Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

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
                Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008

ancestors
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