363235000: Hereditary disorder of nervous system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system

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

Descriptions:

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
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 (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal dominant epilepsy with auditory features (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	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 (disorder)	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 (disorder)	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 (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotonia congenita	Is a	True	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
Benign hereditary chorea	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Inherited optic neuropathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Meretoja syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Seckel syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
PPM-X syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary essential tremor	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Neu-Laxova syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Neurofibromatosis type 2	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Periventricular nodular heterotopia	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal recessive progressive external ophthalmoplegia	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked progressive cerebellar ataxia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Primary inherited reading epilepsy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Neuropathy in association with hereditary ataxia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Megalencephaly capillary malformation	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Proteus syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Bilateral frontoparietal polymicrogyria (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Type 3 lissencephaly	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary ataxia (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Aspartylglucosaminuria	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Choroid plexus carcinoma	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal recessive distal hereditary motor neuropathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal dominant distal hereditary motor neuropathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked distal hereditary motor neuropathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Familial porencephaly (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
MARCH syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Infantile-onset generalised dyskinesia with orofacial involvement	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Fried syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked immunoneurologic disorder (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked panhypopituitarism (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary growth hormone deficiency (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 1	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 3	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 9 (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 10 (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Progressive myoclonic epilepsy type 7	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebral ventriculomegaly, cystic kidney disease	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some

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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
12699751000172111	affection héréditaire du système nerveux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913741000172117	hereditaire aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913751000172115	erfelijke aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)