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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
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Optic nerve oedema, splenomegaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive frontotemporal pachygyria Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 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 hyperglycinaemia 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
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Chudley McCullough syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome 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 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 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
X-linked acrogigantism 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 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
COL4A1-related familial vascular leucoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
KCNQ2-related neonatal epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 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 C9ORF72 expansions Is a False Hereditary disorder of nervous system Inferred relationship Some
Gemignani syndrome 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 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 luteinising hormone Is a True Hereditary disorder of nervous system Inferred relationship Some
Recessive mitochondrial ataxia syndrome 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 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 8 Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 6 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 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
ADan amyloidosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Von Voss-Cherstvoy syndrome 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 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 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
Familial infantile myoclonic epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 1 Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant epilepsy with auditory features Is a True Hereditary disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Hyperekplexia epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Genetically determined myasthenia Is a True Hereditary disorder of nervous system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Amyotonia congenita 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
Huntington's chorea Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary degenerative disease of central nervous system Is a True 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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