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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
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Inherited optic neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Meretoja syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
PPM-X syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary essential tremor est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neu-Laxova syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de Marinesco-Sjögren est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 2 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 1 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Woodhouse Sakati syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Periventricular nodular heterotopia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked progressive cerebellar ataxia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Primary inherited reading epilepsy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neuropathy in association with hereditary ataxia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
macrocéphalie, malformation capillaire est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial spinal neurofibromatosis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Type 3 lissencephaly est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leucodystrophy without a known biochemical basis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary ataxia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Acute neuronopathic Gaucher's disease est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Endosteal hyperostoses with cerebellar hypoplasia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
aspartylglucosaminurie (trouble) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Choroid plexus carcinoma est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked distal hereditary motor neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
XK aprosencephaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial porencephaly (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
MARCH syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
TBCK-related intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Fried syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome immuno-neurologique lié à l'X est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Acyl-coenzyme A oxidase deficiency (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked panhypopituitarism (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hyperphenylalanineaemia due to DNAJC12 deficiency est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary growth hormone deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 1 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 3 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 8 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 9 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 10 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Polymicrogyria due to TUBB2B mutation est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 7 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Primary dystonia DYT27 type est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Giant axonal neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 9 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Duane retraction syndrome with congenital deafness est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary continuous muscle fiber activity est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Benign familial neonatal-infantile seizures (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Inherited metabolic disorder of nervous system est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some

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