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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
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1226 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Is a Disease of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudocholinesterase deficiency Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neuroaxonal leukodystrophy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Laurence-Moon syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sjögren-Larsson syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Walker-Warburg congenital muscular dystrophy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy without a known biochemical basis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atrophia bulborum hereditaria Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cross syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neuraxial oedema Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor end-plate disease Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebellar degeneration Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary oculoleptomeningeal amyloid angiopathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor neuron disease Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dalmatian leukodystrophy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bardet-Biedl syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cohen syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic non-neuropathic Gaucher's disease Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary peripheral neuropathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hydrocephalus syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of central nervous system due to xeroderma pigmentosum (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coproporphyria Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid mental retardation syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spongy degeneration of central nervous system (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wilson's disease Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gouty neuritis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemiplegic migraine Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in Hunter's disease Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in mucopolysaccharidosis (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset basal ganglia degeneration (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant idiopathic familial dystonia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral lipidosis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondromatosis with basal ganglia calcification (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatal familial insomnia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rud's syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glucose transporter protein type 1 deficiency syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked periventricular heterotopia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dystonia parkinsonism (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
2-hydroxyglutaric aciduria Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paroxysmal extreme pain disorder Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane-radial ray syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cockayne syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 1 Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-methylacyl-CoA racemase deficiency disorder Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive idiopathic familial dystonia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rapid onset dystonia parkinsonism Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cold-induced sweating syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated pituitary adenoma Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination and congenital cataract Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acid hydroxylase associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial encephalopathy with neuroserpin inclusion bodies Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dentatorubral-pallidoluysian atrophy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
GRN-related frontotemporal dementia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary diffuse leucoencephalopathy with spheroids Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Frontotemporal dementia with parkinsonism-17 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amish lethal microcephaly (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with vitamin E deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
FOXG1 syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cystatin C amyloid angiopathy Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-capillary malformation syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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