SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal dominant hereditary disorder  11164009

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

SNOMED CT code


SNOMED code1172604004
nameDIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)
synonyms
  • DIAPH1-related sensorineural deafness, thrombocytopenia syndrome
  • DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
  • Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome
attributes - group4
Clinical courseProgressive   255314001
attributes - group5
Finding siteAuditory structure   91159003
attributes - group1
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group2
InterpretsHemostatic function   74848003
Has interpretationAbnormal   263654008
attributes - group3
InterpretsPlatelet count   61928009
Has interpretationBelow reference range   281300000
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hearing loss associated with syndrome   232333009
  • Chronic disease   27624003
  • Auditory system hereditary disorder   362991006
  • Hereditary thrombocytopenic disorder   438492008
  • Sensorineural hearing loss   60700002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

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
              DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Disorder of hemostatic system   362970003
        Platelet disorder   22716005
          Inherited platelet disorder   234469001
            Hereditary thrombocytopenic disorder   438492008
              DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome   1172604004

ancestors
sorted most to least specific
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