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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
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 3 Is a True Hereditary disorder of nervous system Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Ptosis and vocal cord paralysis syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Jawad syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Optic nerve edema, splenomegaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Warburg micro syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Zechi Ceide syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive frontotemporal pachygyria (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Hereditary disorder of nervous system Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a False Hereditary disorder of nervous system Inferred relationship Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments Is a False Hereditary disorder of nervous system Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial infantile gigantism (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked acrogigantism Is a False Hereditary disorder of nervous system Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Ferro-cerebro-cutaneous syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Fatal post-viral neurodegenerative disorder Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant primary microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary CD59 deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebral atrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a False Hereditary disorder of nervous system Inferred relationship Some
Dystonia aphonia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a False Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Gemignani syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial episodic pain syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Inherited congenital spastic tetraplegia Is a True Hereditary disorder of nervous system Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Occipital pachygyria and polymicrogyria (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Parkinsonian pyramidal syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 8 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 6 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 5 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
AGel amyloidosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cranio-cervical dystonia with laryngeal and upper limb involvement Is a True Hereditary disorder of nervous system Inferred relationship Some
Adult-onset cervical dystonia DYT23 type (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
ADan amyloidosis Is a False Hereditary disorder of nervous system Inferred relationship Some
DK phocomelia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypohidrosis-diabetes insipidus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of nervous system Inferred relationship Some
Malignant migrating partial seizures of infancy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial congenital mirror movements Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 4 Is a False Hereditary disorder of nervous system Inferred relationship Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Is a True Hereditary disorder of nervous system Inferred relationship Some

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