Abnormal nervous system function

Abnormal nervous system function (finding)

active

Code	`13028004`
Semantic tag	finding
Module	international
Definition	defined
Effective time	20210930

Synonyms

Abnormal neurological function

Parents (2)

118228005Functional finding finding
102957003Neurological finding finding

Children (68)

702327009Allan-Herndon-Dudley syndrome disorder
788417006Alopecia, epilepsy, intellectual disability syndrome Moynahan type disorder
230280008Alzheimer's disease with progressive aphasia disorder
109478007Amelocerebrohypohidrotic syndrome disorder
720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder
771448004Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency disorder
773498006Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency disorder
770898002Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency disorder
1186734006Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction disorder
770901001Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome disorder
773230003CDKL5 developmental and epileptic encephalopathy disorder
1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder
1208936008Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome disorder
782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy disorder
773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder
1187042007Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome disorder
724992007Epilepsy co-occurrent and due to dementia disorder
733032006Epilepsy telangiectasia syndrome disorder
733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder
82381000119103Epileptic dementia with behavioural disturbance disorder
1237619001Fatty acyl-CoA reductase 1 deficiency disorder
765089003Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome disorder
770431001GRIN2A developmental and epileptic encephalopathy disorder
1172630000Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome disorder
785726009Hyperekplexia epilepsy syndrome disorder
1149251000Impaired peripheral neurovascular function finding
1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder
770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder
763743003Intellectual disability, spasticity, ectrodactyly syndrome disorder
724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder
1187304005Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome disorder
722033000Macrocephaly, short stature, paraplegia syndrome disorder
1363286000Mesomelic dysplasia, digital anomalies, intellectual disability syndrome disorder
723304001Microcephaly, seizure, intellectual disability, heart disease syndrome disorder
720010009Microphthalmia with brain atrophy syndrome disorder
1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder
1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder
1373770005Neuronal ceroid lipofuscinosis type 8 disorder
782945001Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome disorder
722110003Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome disorder
716706009PCDH19 clustering epilepsy disorder
763861000Pachygyria, intellectual disability, epilepsy syndrome disorder
702344008Pitt-Hopkins syndrome disorder
1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder
1173998003Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome disorder
1351854006Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome disorder
1269236003Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome disorder
733086003Pseudoprogeria syndrome disorder
699656000Radiation induced taste impairment disorder
765170001SCN8A developmental and epileptic encephalopathy disorder
1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder
721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome disorder
1187250005Seizures, scoliosis, macrocephaly syndrome disorder
83156004Sense of smell impaired finding
778011005Severe intellectual disability and progressive spastic paraplegia disorder
723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder
782723007Severe intellectual disability, progressive spastic diplegia syndrome disorder
783005002Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome disorder
1179282009Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract disorder
1208341008Severe oculo-renal-cerebellar syndrome disorder
732958004Spastic paraplegia with precocious puberty syndrome disorder
733455003Spastic paraplegia, glaucoma, intellectual disability syndrome disorder
1260134001Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome disorder
722209002Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome disorder
1187278006Spastic paraplegia, severe developmental delay, epilepsy syndrome disorder
723621000Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome disorder
719810000X-linked intellectual disability with seizure and psoriasis syndrome disorder
725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder