FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

128190004: Inherited metabolic disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206413012 Inherited metabolic disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
206413012 Inherited metabolic disorder of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
206413012 Inherited metabolic disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4787881000241113 maladie métabolique congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4787881000241113 maladie métabolique congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

173 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited metabolic disorder of nervous system Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited metabolic disorder of nervous system Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Acute neuronopathic Gaucher's disease (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Arginase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Sialidosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder) Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neuronal ceroid lipofuscinosis Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Gangliosidosis (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type A (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Subacute neuronopathic Gaucher's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cerebroside-sulfatase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alexander's disease Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type C, acute form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pyruvate carboxylase deficiency (disorder) Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of monoamine oxidase A (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A lysosomal storage disease belonging to the group of sphingolipidoses. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ganglioside GM3 synthase deficiency (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Thiamine-responsive encephalopathy (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mucolipidosis type IV (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Lipoic acid synthetase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with cerebellar involvement Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with intellectual disability (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Navajo neurohepatopathy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 30 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 29 (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ethylmalonic encephalopathy (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxine-dependent epilepsy (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Recessive mitochondrial ataxia syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leber's optic atrophy Is a True Inherited metabolic disorder of nervous system 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 True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral lipidosis Is a False Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Acyl-coenzyme A oxidase deficiency (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy myopathy sensory ataxia (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a True Inherited metabolic disorder of 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 Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial pyruvate carrier deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Megaconial congenital muscular dystrophy (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Limb girdle muscular dystrophy due to POMK deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
NAD(P)HX dehydratase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
NAD(P)HX epimerase deficiency (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Fabry's disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
WARS2-related combined oxidative phosphorylation defect Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cholestanol storage disease Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Galactosylceramide beta-galactosidase deficiency Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Existential restriction modifier (core metadata concept)

Page 1 of 2 End

This concept is not in any reference sets

Back to Start