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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
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Huntington disease-like 3 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alopecia, progressive neurological defect, endocrinopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cortical dysplasia with focal epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile epileptic dyskinetic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Polymicrogyria with optic nerve hypoplasia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive polyneuropathy with bilateral striatal necrosis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ptosis and vocal cord paralysis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Jawad syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Optic nerve edema, splenomegaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Warburg micro syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Zechi Ceide syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive frontotemporal pachygyria Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Childhood-onset spasticity with hyperglycinemia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Chudley McCullough syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pitt Hopkins-like syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial infantile gigantism Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked acrogigantism Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ferro-cerebro-cutaneous syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fatal post-viral neurodegenerative disorder Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomyelination with brain stem and spinal cord involvement and leg spasticity Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 9 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant primary microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary CD59 deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebral atrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Sodium channelopathy-related small fiber neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dystonia aphonia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Gemignani syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial episodic pain syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Inherited congenital spastic tetraplegia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Occipital pachygyria and polymicrogyria Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Recessive mitochondrial ataxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Tremor, nystagmus, duodenal ulcer syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Thoracic dysplasia and hydrocephalus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Parkinsonian pyramidal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 8 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 6 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 5 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary gelsolin amyloidosis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ataxia with tapetoretinal degeneration syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cranio-cervical dystonia with laryngeal and upper limb involvement Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Adult-onset cervical dystonia DYT23 type Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial dementia Danish type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypohidrosis-diabetes insipidus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Malignant migrating partial seizures of infancy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial congenital mirror movements Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia with leukoencephalopathy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 4 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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