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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

1121 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of nervous system est un(e) (attribut) Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de Jawad est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Optic nerve edema, splenomegaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Warburg micro syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Zechi Ceide syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive frontotemporal pachygyria (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome neurodégénératif sévère avec lipodystrophie est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Chudley McCullough syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
NPHP3-related Meckel-like syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial infantile gigantism (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked acrogigantism est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Fatal post-viral neurodegenerative disorder est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant primary microcephaly est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Primary CD59 deficiency est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebral atrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Dystonia aphonia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Gemignani syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial episodic pain syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Inherited congenital spastic tetraplegia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Occipital pachygyria and polymicrogyria (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Parkinsonian pyramidal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 8 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 6 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 5 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
AGel amyloidosis est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cranio-cervical dystonia with laryngeal and upper limb involvement est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Adult-onset cervical dystonia DYT23 type (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
ADan amyloidosis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
DK phocomelia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypohidrosis-diabetes insipidus syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Malignant migrating partial seizures of infancy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial congenital mirror movements est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 4 est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial infantile myoclonic epilepsy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant epilepsy with auditory features (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Obesity due to leptin receptor gene deficiency est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Genetically determined myasthenia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Amyotonia congenita est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
maladie de Huntington est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary degenerative disease of central nervous system est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Benign hereditary chorea est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some

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