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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
Biotin-thiamine-responsive basal ganglia disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Mowat-Wilson syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Retinal detachment and occipital encephalocele est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
déficit en alpha-N-acétylgalactosaminidase est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Sjögren-Larsson syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Dentatorubropallidoluysian degeneration est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
dystrophie musculaire congénitale de Walker-Warburg est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
neurodégénérescence associée à la protéine de membrane mitochondriale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
neuropathie axonale autosomique récessive avec neuromyotonie est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Acrocallosal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
microcéphalie-microcornée type Seemanova est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leigh's disease est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant late onset Parkinson disease (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
ataxie cérébelleuse type Caïman est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Melanoma and neural system tumour syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Non-polyposis Turcot syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Behavioral variant of frontotemporal dementia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Joubert syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary geniospasm (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Combined pituitary hormone deficiency genetic form (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Behr syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Maternally inherited mitochondrial dystonia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial Creutzfeldt-Jakob (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Achalasia microcephaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 7 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 5 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 4 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 3 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 1 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 8 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Lattice corneal dystrophy Type II (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly due to tubulin alpha 1A mutation (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Progressive cavitating leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant focal dystonia DYT25 type (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some

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