Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT code


SNOMED code721087008
nameDeafness and intellectual disability Martin Probst type syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Deafness and intellectual disability Martin Probst type syndrome (disorder)
synonyms
  • Deafness and intellectual disability Martin Probst type syndrome
  • Martin Probst syndrome
  • X-linked deafness and intellectual disability syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
attributes - group3
Has interpretationImpaired   260379002
InterpretsHearing   47078008
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • X-linked sensorineural hearing loss   232329002
  • Hearing loss associated with syndrome   232333009
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital sensorineural hearing loss   700453005
  • Bilateral hearing loss   95820000
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
          Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          X-linked sensorineural hearing loss   232329002
            Deafness and intellectual disability Martin Probst type syndrome   721087008

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
              Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Deafness and intellectual disability Martin Probst type syndrome   721087008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss of right ear   473423001
              Bilateral hearing loss   95820000
                Deafness and intellectual disability Martin Probst type syndrome   721087008

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