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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

1219 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 Some
Hereditary disorder of nervous system Is a Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephaly-capillary malformation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Von Hippel-Lindau syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a False Hereditary disorder of nervous system Inferred relationship Some
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of nervous system Inferred relationship Some
Dentatorubropallidoluysian degeneration Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial membrane protein associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Acrocallosal syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Waardenburg Shah syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Leigh's disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant late onset Parkinson disease (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Non-polyposis Turcot syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Behavioral variant of frontotemporal dementia (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
L1 syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Joubert syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary geniospasm (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Combined pituitary hormone deficiency genetic form (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Behr syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Maternally inherited mitochondrial dystonia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial Creutzfeldt-Jakob (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Achalasia microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 7 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 5 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 4 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 3 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 1 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 8 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Lattice corneal dystrophy Type II Is a False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly due to tubulin alpha 1A mutation (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) Is a 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) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive cavitating leukoencephalopathy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant focal dystonia DYT25 type (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some

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