Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT code


SNOMED code722213009
nameSevere X-linked intellectual disability Gustavson type
statusactive
date introduced2017-01-31
fully specified name(s)Severe X-linked intellectual disability Gustavson type (disorder)
synonymsSevere X-linked intellectual disability Gustavson type
attributes - group3
Finding siteOptic nerve structure   18234004
Associated morphologyAtrophy   13331008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group4
Finding siteAuditory structure   91159003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group5
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group6
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • X-linked recessive hereditary disease   1162976004
  • Hearing loss associated with syndrome   232333009
  • Inherited optic neuropathy   312942003
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital atrophy of optic nerve   722990003
  • Congenital degeneration of nervous system   95477007
  • Congenital anomaly of optic nerve   95502000
  • Congenital hearing disorder   95827002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Severe X-linked intellectual disability Gustavson type   722213009

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
                Severe X-linked intellectual disability Gustavson type   722213009

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
              Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe X-linked intellectual disability Gustavson type   722213009

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
              Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital atrophy of optic nerve   722990003
          Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Congenital degeneration of nervous system   95477007
          Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of optic nerve   95502000
            Severe X-linked intellectual disability Gustavson type   722213009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Severe X-linked intellectual disability Gustavson type   722213009

ancestors
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