Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT code


SNOMED code733419006
nameMetaphyseal dysostosis, intellectual disability, conductive deafness syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
synonymsMetaphyseal dysostosis, intellectual disability, conductive deafness syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group3
InterpretsHearing   47078008
parents
  • Intellectual disability   110359009
  • Hearing loss associated with syndrome   232333009
  • Metaphyseal chondrodysplasia   28681006
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Conductive hearing loss   44057004
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital hearing disorder   95827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

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
              Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Metaphyseal chondrodysplasia   28681006
              Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Conductive hearing loss   44057004
            Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome   733419006

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