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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym Active Entire term case insensitive SNOMED CT core module
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1163 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of nervous system Is a Disorder of nervous system true Inferred relationship Existential restriction modifier
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephaly-capillary malformation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Von Hippel-Lindau syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary neurocutaneous angiomata Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Peutz-Jeghers syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Tuberous sclerosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurofibromatosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Biotin-thiamine-responsive basal ganglia disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mowat-Wilson syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dentatorubropallidoluysian degeneration Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomagnesemia with secondary hypocalcemia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial membrane protein associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebroretinal microangiopathy with calcifications and cysts Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spastic paraparesis co-occurrent with deafness Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant dopa responsive dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Acrocallosal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebellar ataxia co-occurrent with ectodermal dysplasia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus co-occurrent with cervical spine fusion anomaly Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 2 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Generalized epilepsy and paroxysmal dyskinesia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Agenesis of cerebellum and hydrocephalus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leigh's disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Growth delay with hydrocephalus and lung hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant late onset Parkinson disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Deafness with malformation of ear and facial palsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked epilepsy with learning disability and behavior disorder syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign adult familial myoclonic epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Folinic acid responsive seizure syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebellar ataxia Cayman type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Melanoma and neural system tumor syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lissencephaly syndrome Norman Roberts type Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Encephalopathy due to sulfite oxidase deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive primary microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Non-polyposis Turcot syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Female restricted epilepsy with intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Behavioral variant of frontotemporal dementia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Joubert syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cavernous hemangioma of brain Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary geniospasm Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Combined pituitary hormone deficiency genetic form Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Behr syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Gerstmann-Straussler-Scheinker syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial Creutzfeldt-Jakob Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Moyamoya disease with early onset achalasia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Juvenile amyotrophic lateral sclerosis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Achalasia microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hydrocephalus with cleft palate and joint contracture syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 7 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 6 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 5 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 4 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 3 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 1 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 8 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lattice corneal dystrophy Type II Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with ataxia and apraxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Hamel type Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Bertini type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive cavitating leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus with cardiac defect and lung malsegmentation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus cardiomyopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant focal dystonia DYT25 type Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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