CAMOS syndrome   726031001

SNOMED CT code


SNOMED code726031001
nameCAMOS syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
synonyms
  • CAMOS syndrome
  • CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
  • Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
  • SCAR5 - spinocerebellar ataxia autosomal recessive 5
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyAtrophy   13331008
Finding siteOptic nerve structure   18234004
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteBlood vessel structure of skin   397018003
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Intellectual disability   110359009
  • Early onset cerebellar ataxia   230227009
  • Inherited optic neuropathy   312942003
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Cutaneous vascular malformation   400042000
  • Congenital atrophy of optic nerve   722990003
  • Hereditary ataxia   763597000
  • Autosomal recessive hereditary disorder   85995004
  • Congenital degeneration of nervous system   95477007
  • Congenital anomaly of optic nerve   95502000
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
            CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Early onset cerebellar ataxia   230227009
            CAMOS syndrome   726031001

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
            CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Vascular disorder   27550009
          Vascular disease of the skin   11263005
            Cutaneous vascular malformation   400042000
              CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital atrophy of optic nerve   722990003
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              CAMOS syndrome   726031001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Congenital degeneration of nervous system   95477007
          CAMOS syndrome   726031001

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
            CAMOS syndrome   726031001

ancestors
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