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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
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like 3 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kortikale Dysplasie-fokale Epilepsie-Syndrom Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive polyneuropathy with bilateral striatal necrosis (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis and vocal cord paralysis syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jawad syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic nerve edema, splenomegaly syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Warburg micro syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive frontotemporal pachygyria (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodegenerative syndrome with lipodystrophy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephrocystin 3-related Meckel-like syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) 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 False Hereditary disorder of nervous system (disorder) 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 False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked acrogigantism Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatal post-viral neurodegenerative disorder Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 9 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary CD59 deficiency Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebral atrophy (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sodium channelopathy-related small fibre neuropathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) Is a False Hereditary disorder of nervous system (disorder) 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 False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of nervous system (disorder) 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 False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial episodic pain syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited congenital spastic tetraplegia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Occipital pachygyria and polymicrogyria Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. Is a True Hereditary disorder of nervous system (disorder) 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 False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Recessive mitochondrial ataxia syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tremor, nystagmus, duodenal ulcer syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thoracic dysplasia and hydrocephalus syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Parkinsonian pyramidal syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
AGel amyloidosis Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset cervical dystonia DYT23 type (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
ADan amyloidosis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
DK phocomelia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis-diabetes insipidus syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Malignant migrating partial seizures of infancy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital mirror movements (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 4 Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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)

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