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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 Reference Sets
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

946 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
Pseudocholinesterase deficiency 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 False 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
Leucodystrophy without a known biochemical basis 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
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 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 mental retardation syndrome 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 True 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
Dentatorubral-pallidoluysian atrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True 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
Hereditary cystatin C amyloid angiopathy 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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This concept is not in any reference sets

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