Inherited optic neuropathy

Inherited optic neuropathy (disorder)

active

Code	`312942003`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20200131

Parents (3)

77157004Disorder of optic nerve disorder
363235000Hereditary disorder of nervous system disorder
363343008Hereditary disorder of the visual system disorder

Children (27)

720410001Acro-oto-ocular syndrome disorder
1222649004Auditory neuropathy, optic atrophy syndrome disorder
1197151003Autosomal recessive isolated optic atrophy disorder
784347002Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome disorder
718221007Behr syndrome disorder
726031001CAMOS syndrome disorder
1332382002COMMAD syndrome disorder
720634003Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome disorder
1179296003Colobomatous macrophthalmia with microcornea syndrome disorder
1197357008Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome disorder
770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder
1197365006Familial cavitary optic disc anomaly disorder
721843003GAPO syndrome disorder
26360005Hereditary optic atrophy disorder
778021002Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome disorder
1208621008Multiple mitochondrial dysfunctions syndrome type 4 disorder
1172586007Ocular anomalies, axonal neuropathy, developmental delay syndrome disorder
1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder
771471002Optic nerve oedema, splenomegaly syndrome disorder
1217367007PLAA-associated neurodevelopmental disorder disorder
771336003Polymicrogyria with optic nerve hypoplasia disorder
442511009Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome disorder
722213009Severe X-linked intellectual disability Gustavson type disorder
1237618009Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome disorder
70694009Wolfram syndrome disorder
1172692006X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome disorder
723622007X-linked spastic paraplegia type 2 disorder