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13028004: Abnormal nervous system function (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
22307013 Abnormal nervous system function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
22308015 Abnormal neurological function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
734533015 Abnormal nervous system function (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

74 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal nervous system function Is a Neurological finding true Inferred relationship Some
Abnormal nervous system function Finding site Structure of nervous system (body structure) false Inferred relationship Some
Abnormal nervous system function Interprets Nervous system function false Inferred relationship Some
Abnormal nervous system function Is a Functional finding true Inferred relationship Some
Abnormal nervous system function Finding site Structure of nervous system (body structure) true Inferred relationship Some 2
Abnormal nervous system function Interprets Nervous system function true Inferred relationship Some 1
Abnormal nervous system function Has interpretation Abnormal true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Perceptual disturbances and seizures co-occurrent and due to hypnotic withdrawal (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a True Abnormal nervous system function Inferred relationship Some
Amelocerebrohypohidrotic syndrome Is a True Abnormal nervous system function Inferred relationship Some
Sense of smell impaired Is a True Abnormal nervous system function Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Abnormal nervous system function Inferred relationship Some
Pitt-Hopkins syndrome Is a True Abnormal nervous system function Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Abnormal nervous system function Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Epilepsy co-occurrent and due to dementia Is a True Abnormal nervous system function Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
PCDH19 clustering epilepsy Is a True Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Abnormal nervous system function Inferred relationship Some
Epileptic dementia with behavioral disturbance Is a True Abnormal nervous system function Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Abnormal nervous system function Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Abnormal nervous system function Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Abnormal nervous system function Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Abnormal nervous system function Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Is a True Abnormal nervous system function Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Neuronal ceroid lipofuscinosis type 8 Is a True Abnormal nervous system function Inferred relationship Some
Radiation induced taste impairment Is a True Abnormal nervous system function Inferred relationship Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a False Abnormal nervous system function Inferred relationship Some
Amelocerebrohypohidrotic syndrome Is a False Abnormal nervous system function Inferred relationship Some
Sense of smell impaired Is a False Abnormal nervous system function Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a False Abnormal nervous system function Inferred relationship Some
Pitt-Hopkins syndrome Is a False Abnormal nervous system function Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a False Abnormal nervous system function Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Abnormal nervous system function Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Abnormal nervous system function Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Epilepsy co-occurrent and due to dementia Is a False Abnormal nervous system function Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
PCDH19 clustering epilepsy Is a False Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a False Abnormal nervous system function Inferred relationship Some
Epileptic dementia with behavioral disturbance Is a False Abnormal nervous system function Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a True Abnormal nervous system function Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Abnormal nervous system function Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Abnormal nervous system function Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a False Abnormal nervous system function Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a False Abnormal nervous system function Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Abnormal nervous system function Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Abnormal nervous system function Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a False Abnormal nervous system function Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Abnormal nervous system function Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) Is a True Abnormal nervous system function Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Abnormal nervous system function Inferred relationship Some
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder) Is a True Abnormal nervous system function Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) Is a False Abnormal nervous system function Inferred relationship Some
Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Neuronal ceroid lipofuscinosis type 8 Is a False Abnormal nervous system function Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a False Abnormal nervous system function Inferred relationship Some
Alzheimer's disease with progressive aphasia (disorder) Is a True Abnormal nervous system function Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Is a False Abnormal nervous system function Inferred relationship Some

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