Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT code


SNOMED code724282009
nameHypoparathyroidism, deafness, renal disease syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Hypoparathyroidism, deafness, renal disease syndrome (disorder)
synonyms
  • Hypoparathyroidism, deafness, renal disease syndrome
  • Barakat syndrome
  • HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome
  • HDR syndrome
attributes - group7
Finding siteAuditory structure   91159003
attributes - group6
InterpretsHearing   47078008
attributes - group8
OccurrenceCongenital   255399007
Finding siteChromosome pair 10   56332006
Associated morphologyDeletion of short arm   67285006
attributes - group9
OccurrenceCongenital   255399007
Finding siteChromosome pair 10   56332006
Associated morphologyPartial monosomy   371169004
attributes - group10
OccurrenceCongenital   255399007
Finding siteParathyroid structure   111002
attributes - group11
OccurrenceCongenital   255399007
Finding siteKidney structure   64033007
attributes - group5
Has interpretationDecreased   1250004
InterpretsHormone secretion   60877009
parents
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
              Hypoparathyroidism, deafness, renal disease syndrome   724282009

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
              Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Endocrine finding   106176003
      Decreased hormone secretion   42497006
        Hypoparathyroidism   36976004
          Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 10   2893009
              Deletion of part of chromosome 10   726380001
                10p partial monosomy syndrome   6002006
                  Hypoparathyroidism, deafness, renal disease syndrome   724282009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Hypoparathyroidism, deafness, renal disease syndrome   724282009

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