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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Hereditary disorder of nervous system Is a Neurological disorder true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
NDE1-related microhydranencephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebellar-facial-dental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
EMILIN-1-related connective tissue disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign familial infantile epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Albinism with deafness syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Oculocerebrodental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital leptin deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Polyendocrine polyneuropathy syndrome Is a True 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
Autosomal dominant late onset basal ganglia degeneration Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant idiopathic familial dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebral lipidosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Inherited arthrogryposis Is a False 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 oedema 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
Pseudocholinesterase deficiency Is a False 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
Spondyloenchondromatosis with basal ganglia calcification 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
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
Leucodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked hydrocephalus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Disorder of central nervous system due to xeroderma pigmentosum Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary coproporphyria 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
Marfanoid intellectual disability 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
Ataxia-telangiectasia 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
Episodic ataxia 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 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Glucose transporter protein type 1 deficiency syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked periventricular heterotopia Is a True Hereditary disorder of nervous system Inferred relationship Some
Neuroaxonal leucodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Myoclonic epilepsy with ragged red fibres 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
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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Duane-radial ray syndrome 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
Brown-Vialetto-Van Laere syndrome 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 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 Is a True Hereditary disorder of nervous system Inferred relationship Some
Cold-induced sweating syndrome 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Fatty acid hydroxylase associated neurodegeneration 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 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

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Reference Sets

Australian emergency department reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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