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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
VACTERL syndrome with hydrocephalus Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive cavitating leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with albinism and digital anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly cleft palate syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant focal dystonia DYT25 type Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Vici syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Temtamy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microphthalmia with brain atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Acro-oto-ocular syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult-onset dystonia parkinsonism Is a True Hereditary disorder of nervous system Inferred relationship Some
Anonychia with microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Brain calcification Rajab type Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cystic leucoencephalopathy without megalencephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebrooculonasal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Hereditary disorder of nervous system Inferred relationship Some
Filippi syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Hall Riggs syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial Alzheimer-like prion disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Beemer Ertbruggen syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 2 Is a True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Say Barber Miller syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Lowry MacLean syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Lymphoedema and cerebral arteriovenous anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Lowry Wood syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Isotretinoin-like syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadism with anosmia Is a False Hereditary disorder of nervous system Inferred relationship Some
Oculo-palato-cerebral syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
CEDNIK syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Hennekam Beemer syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Galloway Mowat syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
GAPO syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy Is a False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a False Hereditary disorder of nervous system Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Dystonia 16 Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial caudal dysgenesis Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile dystonia parkinsonism Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Inherited autonomic nervous system disorder Is a True Hereditary disorder of nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Ethylmalonic encephalopathy Is a False Hereditary disorder of nervous system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial acute necrotising encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microlissencephaly micromelia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a False Hereditary disorder of nervous system Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability Is a False Hereditary disorder of nervous system Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Renier Gabreels Jasper syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Sensorineural hearing loss, early greying, essential tremor syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Kufor Rakeb syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
RHYNS syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Posterior column ataxia with retinitis pigmentosa syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral haemorrhage with amyloidosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Neuroectodermal melanolysosomal disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
McLeod neuroacanthocytosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile choroidocerebral calcification syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary hyperekplexia 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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