Disorder of optic nerve
Hereditary disorder of nervous system
Hereditary disorder of the visual system
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Inherited optic neuropathy (disorder)
Inherited optic neuropathy
hereditaire opticusneuropathie
Id312942003
StatusDefined
Finding siteOptic nerve structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH46
RuleTRUE
AdviceALWAYS H46
CorrelationSNOMED CT source code to target map code correlation not specified
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Acro-oto-ocular syndrome
Auditory neuropathy, optic atrophy syndrome
Autosomal recessive isolated optic atrophy
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
CAMOS syndrome
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
Colobomatous macrophthalmia with microcornea syndrome
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome
Combined immunodeficiency with faciooculoskeletal anomalies syndrome
Diabetes mellitus AND insipidus with optic atrophy AND deafness
Familial cavitary optic disc anomaly
GAPO syndrome
Hereditary optic atrophy17
Isolated optic nerve hypoplasia
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
Multiple mitochondrial dysfunctions syndrome type 4
Ocular anomalies, axonal neuropathy, developmental delay syndrome
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
Optic nerve edema, splenomegaly syndrome
PLAA-associated neurodevelopmental disorder
Polymicrogyria with optic nerve hypoplasia
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
Severe X-linked intellectual disability Gustavson type
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
X-linked spastic paraplegia type 2