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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1219 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 Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Vici syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) 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 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Acrootoocular syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult-onset dystonia parkinsonism (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Brain calcification Rajab type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebrooculonasal syndrome (disorder) 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 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hall Riggs syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 2 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) 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
Oculopalatocerebral syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital intrauterine infection-like syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Galloway Mowat syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Dystonia 16 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial caudal dysgenesis (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile dystonia parkinsonism (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Inherited autonomic nervous system disorder (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Ethylmalonic encephalopathy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial acute necrotizing encephalopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
McLeod neuroacanthocytosis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary hyperekplexia (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant striatal neurodegeneration (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some

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