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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym Active Entire term case insensitive SNOMED CT core module
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1163 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 Existential restriction modifier
Hereditary disorder of nervous system Is a Disorder of nervous system true Inferred relationship Existential restriction modifier
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neuroaxonal leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Myoclonic epilepsy with ragged red fibers Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Laurence-Moon syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Sjögren-Larsson syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Walker-Warburg congenital muscular dystrophy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leucodystrophy without a known biochemical basis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Inherited metabolic disorder of nervous system Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Atrophia bulborum hereditaria Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cross syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Borjeson-Forssman-Lehmann syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary neuraxial edema Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Distal arthrogryposis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary optic atrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ocular albinism Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary motor end-plate disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cerebellar degeneration Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary spastic paraplegia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary oculoleptomeningeal amyloid angiopathy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary motor neuron disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dalmatian leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cohen syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Menkes kinky-hair syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cutis laxa-corneal clouding-oligophrenia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Chronic non-neuropathic Gaucher's disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alstrom syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary peripheral neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked hydrocephalus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurologic xeroderma pigmentosum Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary coproporphyria Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Marfanoid mental retardation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurocutaneous syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lowe syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spongy degeneration of central nervous system Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Zellweger syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Wilson's disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Gouty neuritis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial hemiplegic migraine Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral degeneration in Hunter's disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral degeneration in mucopolysaccharidosis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant late onset basal ganglia degeneration Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal dominant idiopathic familial dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral lipidosis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Inherited arthrogryposis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spondyloenchondromatosis with basal ganglia calcification Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Freeman-Sheldon syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fatal familial insomnia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign neonatal familial convulsions Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Rud's syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Simpson-Golabi-Behmel syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Glucose transporter protein type 1 deficiency syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked periventricular heterotopia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked dystonia parkinsonism Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Paroxysmal extreme pain disorder Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Duane-radial ray syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Beckwith-Wiedemann syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Sotos' syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cockayne syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Multiple endocrine neoplasia, type 1 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive bulbar palsy with sensorineural deafness Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Aicardi's syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alpha-methylacyl-CoA racemase deficiency disorder Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive idiopathic familial dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Rapid onset dystonia parkinsonism Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonus epilepsy with ataxia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cold-induced sweating syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial isolated pituitary adenoma Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomyelination and congenital cataract Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Frontotemporal dementia with gene located on 3p11 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fatty acid hydroxylase associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial encephalopathy with neuroserpin inclusion bodies Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dentatorubral-pallidoluysian atrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Deafness-dystonia-optic neuronopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
GRN-related frontotemporal dementia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary diffuse leukoencephalopathy with spheroids Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Frontotemporal dementia with parkinsonism-17 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Amish lethal microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ataxia with vitamin E deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
FOXG1 syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Kohlschutter's syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary cystatin C amyloid angiopathy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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