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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
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
Familial infantile myoclonic epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Huntington disease-like 1 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial mesial temporal lobe epilepsy with febrile seizures Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant epilepsy with auditory features Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Obesity due to leptin receptor gene deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hyperekplexia epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Genetically determined myasthenia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotonia congenita Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Huntington's chorea Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary degenerative disease of central nervous system Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign hereditary chorea Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Inherited optic neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Meretoja syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Seckel syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary essential tremor Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neu-Laxova syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Marinesco-Sjögren syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurofibromatosis type 2 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurofibromatosis type 1 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Periventricular nodular heterotopia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary inherited reading epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neuropathy in association with hereditary ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Megalencephaly capillary malformation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Proteus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Bilateral frontoparietal polymicrogyria Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial spinal neurofibromatosis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Type 3 lissencephaly Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary ataxia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Acute neuronopathic Gaucher's disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Endosteal hyperostoses with cerebellar hypoplasia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Aspartylglucosaminuria Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Combined deficiency of sialidase AND beta galactosidase Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Choroid plexus carcinoma Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
XK aprosencephaly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial porencephaly Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile-onset generalized dyskinesia with orofacial involvement Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fried syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Acyl-coenzyme A oxidase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked panhypopituitarism Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pontine autosomal dominant microangiopathy with leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Kallman syndrome with heart disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary growth hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cathepsin A-related arteriopathy, strokes, leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 1 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 3 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 8 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 9 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial congenital palsy of trochlear nerve Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 10 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 7 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral ventriculomegaly, cystic kidney disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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