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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym Active Case insensitive SNOMED CT core
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1163 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of nervous system Is a Neurological disorder true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hyperekplexia Is a False Hereditary disorder of nervous system Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a False Hereditary disorder of nervous system Inferred relationship Some
CAMOS syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Isolated optic nerve hypoplasia Is a False Hereditary disorder of nervous system Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a True Hereditary disorder of nervous system Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Coenzyme A synthase protein associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Czeizel Losonci syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Beta-propeller protein-associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Epilepsy telangiectasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Bonnemann Meinecke Reich syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Stimmler syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset Lafora body disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Pseudoprogeria syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Prion protein systemic amyloidosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Isolated hereditary congenital facial paralysis Is a True Hereditary disorder of nervous system Inferred relationship Some
Mikati Najjar Sahli syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Pyridoxine-dependent epilepsy Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebral folate transport deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria Is a True Hereditary disorder of nervous system Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy with dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial dyskinesia and facial myokymia Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hot water reflex epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic ataxia with congenital miosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial hyperprolactinaemia Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial myoclonus of cerebral cortex Is a True Hereditary disorder of nervous system Inferred relationship Some
Fragile X associated tremor ataxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 7 Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 6 Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 4 Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 3 Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 5 Is a False Hereditary disorder of nervous system Inferred relationship Some
Corpus callosum agenesis, abnormal genitalia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Oro-facial digital syndrome type 14 Is a False Hereditary disorder of nervous system Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Myosclerosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Action myoclonus renal failure syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial focal epilepsy with variable foci Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Hereditary disorder of nervous system Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial multiple benign meningioma Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome encephalomyopathic form Is a False Hereditary disorder of nervous system Inferred relationship Some
Pitt-Hopkins syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Diencephalic mesencephalic junction dysplasia Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Moebius syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypermanganesemia with dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Ataxia pancytopenia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
CLCN2-related leukoencephalopathy Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Odontoleukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult onset autosomal dominant leucodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Pelizaeus Merzbacher like disease Is a False Hereditary disorder of nervous system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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