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106018006: Hereditary degenerative disease of central nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6261091000241112 maladie dégénérative héréditaire du SNC (système nerveux central) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261101000241115 maladie dégénérative héréditaire du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261091000241112 maladie dégénérative héréditaire du SNC (système nerveux central) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261101000241115 maladie dégénérative héréditaire du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

368 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary degenerative disease of central nervous system Is a Degenerative disease of the central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Inherited spastic paresis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sclerosing poliodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensory ataxia of Charolais (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Arrested hydrocephalus Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dalmatian leukodystrophy Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Azorean disease Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Parkinsonism due to heredodegenerative disorder (disorder) Due to True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept) 2
Chorea due to heredodegenerative disorder Due to True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept) 2
Parkinsonian pyramidal syndrome (disorder) Due to True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept) 2
Galactosylceramide beta-galactosidase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset basal ganglia degeneration (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leucodystrophy, adult type Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leigh's disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Gerstmann-Straussler-Scheinker syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ribonucleic acid polymerase III-related leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
GRN-related frontotemporal dementia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain atrophy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Brain calcification Rajab type (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Familial Alzheimer-like prion disease (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Facial onset sensory and motor neuronopathy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare systemic disease characterised by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhoea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid haemorrhage. Poikiloderma and premature greying of the hair may be additionally observed. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile choroidocerebral calcification syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant striatal neurodegeneration (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoleukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Familial Creutzfeldt-Jakob (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Behavioural variant of frontotemporal dementia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus Merzbacher like disease (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebral atrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 3 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
ADan amyloidosis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 4 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Hereditary degenerative disease of central nervous system 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 True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Fatal post-viral neurodegenerative disorder Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Wilson's disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alexander's disease Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Fatal familial insomnia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cone-rod dystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Familial dementia British type (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary oculoleptomeningeal amyloid angiopathy (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Huntington's chorea Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive familial Parkinson disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset basal ganglia degeneration syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Classical pantothenate kinase associated neurodegeneration (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Atypical pantothenate kinase associated neurodegeneration (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)

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