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363235000: Hereditary disorder of nervous system (disorder)

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

Descriptions:

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

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

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