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
brist på pseudokolinesteras	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Neuroaxonal leukodystrophy (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Laurence-Moon syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
leukodystrofi utan känd biokemisk grund	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Inherited metabolic disorder of nervous system	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Cross syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Borjeson-Forssman-Lehmann syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary neuraxial edema	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary optic atrophy	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Ocular albinism	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary motor end-plate disease	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary oculoleptomeningeal amyloid angiopathy	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Icelandic type	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary motor neuron disease	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Dalmatian leukodystrophy	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Dutch type	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Cohen syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cutis laxa-corneal clouding-oligophrenia syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary nephrogenic diabetes insipidus	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Chronic non-neuropathic Gaucher's disease	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Alstrom syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary peripheral neuropathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Neurologic xeroderma pigmentosum (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary coproporphyria	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
marfanoid psykisk utvecklingsstörning	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Neurocutaneous syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Lowe syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Zellweger syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Wilson's disease	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Gouty neuritis	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Familial hemiplegic migraine	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebral degeneration in Hunter's disease	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebral degeneration in mucopolysaccharidosis (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal dominant late onset basal ganglia degeneration	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal dominant idiopathic familial dystonia (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Thyrotoxicosis due to pituitary thyroid hormone resistance	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebral lipidosis	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Inherited arthrogryposis	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Leucodystrophy	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Fatal familial insomnia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Benign neonatal familial convulsions	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Episodic ataxia (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Rud's syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked periventricular heterotopia (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Icelandic type	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked dystonia parkinsonism	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Paroxysmal extreme pain disorder (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Duane-radial ray syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Sotos' syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cockayne syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Multiple endocrine neoplasia, type 1	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Progressive bulbar palsy with sensorineural deafness (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Alpha-methylacyl-CoA racemase deficiency disorder	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Rapid onset dystonia parkinsonism	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cold-induced sweating syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Familial isolated pituitary adenoma	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hypomyelination and congenital cataract	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Horizontal gaze palsy with progressive scoliosis	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Frontotemporal dementia with gene located on 3p11 (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Fatty acid hydroxylase associated neurodegeneration (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Familial encephalopathy with neuroserpin inclusion bodies	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
degeneration av nucleus dentatus, nucleus ruber, nucleus pallidus och corpus luysi	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
GRN-related frontotemporal dementia	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Frontotemporal dementia with parkinsonism-17	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Congenital cataracts, facial dysmorphism and neuropathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Ataxia with vitamin E deficiency (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
FOXG1 syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Kohlschutter's syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder)	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
ärftlig cystatin C-amyloid angiopati	Is a	False	Hereditary disorder of nervous system	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	False	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)