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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
Autosomal dominant late onset basal ganglia degeneration est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant idiopathic familial dystonia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Thyrotoxicosis due to pituitary thyroid hormone resistance est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
lipoïdose cérébrale est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Inherited arthrogryposis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Atrophia bulborum hereditaria est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cross syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary neuraxial edema est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Distal arthrogryposis syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary optic atrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
albinisme oculaire (trouble) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
maladie héréditaire de la plaque motrice est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Butyrylcholinesterase deficiency est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Spondyloenchondromatosis with basal ganglia calcification (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebellar degeneration est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
paraplégie spastique héréditaire (trouble) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary motor neuron disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Dalmatian leukodystrophy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome de Bardet-Biedl est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome de Cohen (trouble) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary nephrogenic diabetes insipidus est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Chronic non-neuropathic Gaucher's disease est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Alstrom syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary peripheral neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leukodystrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked hydrocephalus syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Disorder of central nervous system due to xeroderma pigmentosum est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary coproporphyria est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Fatal familial insomnia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
épilepsie néonatale familiale bénigne est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Marfanoid mental retardation syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Neurocutaneous syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lowe syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spongy degeneration of central nervous system est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Zellweger syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Wilson's disease est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Gouty neuritis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial hemiplegic migraine est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
dégénérescence cérébrale dans la maladie de Hunter est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
dégénérescence cérébrale dans les mucopolysaccharidoses est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Rud's syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Glucose transporter protein type 1 deficiency syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked periventricular heterotopia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neuroaxonal leukodystrophy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Myoclonic epilepsy with ragged red fibers est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Laurence-Moon syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked dystonia parkinsonism est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
2-hydroxyglutaric aciduria est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de douleur extrême paroxystique est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Duane-radial ray syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome de Beckwith-Wiedemann est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Sotos' syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cockayne syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
néoplasie endocrine multiple de type 1 est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Aicardi's syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive idiopathic familial dystonia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Rapid onset dystonia parkinsonism est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonus epilepsy with ataxia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cold-induced sweating syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial isolated pituitary adenoma est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination and congenital cataract est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
paralysie horizontale du regard avec scoliose progressive est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Frontotemporal dementia with gene located on 3p11 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Fatty acid hydroxylase associated neurodegeneration (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial encephalopathy with neuroserpin inclusion bodies est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Dentatorubral-pallidoluysian atrophy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
GRN-related frontotemporal dementia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Frontotemporal dementia with parkinsonism-17 est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Amish lethal microcephaly (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Ataxia with vitamin E deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
FOXG1 syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Kohlschutter's syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cystatin C amyloid angiopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly-capillary malformation syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
maladie de von Hippel-Lindau (trouble) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Tuberous sclerosis syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some

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