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Inherited optic neuropathy 312942003 SNOMED CT code SNOMED code 312942003 name Inherited optic neuropathy status active date introduced 2002-01-31 fully specified name(s) Inherited optic neuropathy (disorder) synonyms Inherited optic neuropathy attributes - group1 Finding site Optic nerve structure 18234004 parents children Acro-oto-ocular syndrome 720410001 Auditory neuropathy, optic atrophy syndrome 1222649004 Autosomal recessive isolated optic atrophy 1197151003 Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome 784347002 CAMOS syndrome 726031001 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003 Colobomatous macrophthalmia with microcornea syndrome 1179296003 Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome 1197357008 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 Familial cavitary optic disc anomaly 1197365006 GAPO syndrome 721843003 Hereditary optic atrophy 26360005 Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome 778021002 Multiple mitochondrial dysfunctions syndrome type 4 1208621008 Ocular anomalies, axonal neuropathy, developmental delay syndrome 1172586007 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 Optic nerve edema, splenomegaly syndrome 771471002 PLAA-associated neurodevelopmental disorder 1217367007 Polymicrogyria with optic nerve hypoplasia 771336003 Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome 442511009 Severe X-linked intellectual disability Gustavson type 722213009 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 Wolfram syndrome 70694009 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006 X-linked spastic paraplegia type 2 723622007 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 362965005 118940003 363235000 312942003 138875005 404684003 118235002 128127008 363343008 312942003 138875005 404684003 118235002 128127008 54767005 77157004 312942003 ancestors sorted most to least specific
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