Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT code


SNOMED code1172586007
nameOcular anomalies, axonal neuropathy, developmental delay syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)
synonyms
  • Ocular anomalies, axonal neuropathy, developmental delay syndrome
  • Harel Yoon syndrome
attributes - group2
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteOptic nerve structure   18234004
Associated morphologyAtrophy   13331008
attributes - group3
Finding siteAxon structure   60436000
parents
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
            Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

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
            Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Axonal neuropathy   60703000
          Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Optic atrophy   76976005
            Ocular anomalies, axonal neuropathy, developmental delay syndrome   1172586007

ancestors
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