363235000: Hereditary disorder of nervous system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system

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

2111791000052114 ärftlig sjukdom i nervsystemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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 syndrome co-occurrent with Hirschsprung disease (disorder)	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
koroideremi samtidig med 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
okulocerebralt dysplastiskt syndrom	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	True	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
icke-polypöst Turcots syndrom	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
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)	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
Behrs syndrom	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
kornealdystrofi, lattice, typ 2	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
syndrom med X-bunden intellektuell funktionsnedsättning, agenesi av corpus callosum och spastisk quadripares	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
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	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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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
2111791000052114	ärftlig sjukdom i nervsystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)