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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
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1226 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Is a Disease of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial mesial temporal lobe epilepsy with febrile seizures Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial epilepsy with auditory features Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cobblestone lissencephaly without muscular or ocular involvement (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Huntington's chorea Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary degenerative disease of central nervous system Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign hereditary chorea Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited optic neuropathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Meretoja Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary essential tremor Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neu-Laxova syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
RAB18 deficiency Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 2 Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periventricular nodular heterotopia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked progressive cerebellar ataxia (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary inherited reading epilepsy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neuropathy in association with hereditary ataxia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proteus syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral frontoparietal polymicrogyria (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Type 3 lissencephaly (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ataxia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acute neuronopathic Gaucher's disease (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choroid plexus carcinoma (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive distal hereditary motor neuropathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant distal hereditary motor neuropathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
XK aprosencephaly syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial porencephaly (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MARCH syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset generalised dyskinesia with orofacial involvement Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
RERE-related neurodevelopmental syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
TBCK-related intellectual disability syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fried syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunoneurologic disorder Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acyl-coenzyme A oxidase deficiency (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked panhypopituitarism Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphenylalaninemia due to DNAJC12 deficiency Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary growth hormone deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cathepsin A-related arteriopathy, strokes, leukoencephalopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 1 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 3 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 9 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital palsy of trochlear nerve (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 10 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polymicrogyria due to TUBB2B mutation Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 7 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral ventriculomegaly, cystic kidney disease Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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