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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
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

1239 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
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. 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
Alpha-N-acetylgalactosaminidase deficiency Is a False 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
œdème axonal héréditaire Is a False Hereditary disorder of nervous system Inferred relationship Some
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 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 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
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
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Is a False Hereditary disorder of nervous system Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False 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
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
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 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 False 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
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. 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
A familial type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) can be seen. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures can occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. 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
An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. 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 (disorder) 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
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. 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
Abrupt onset of dystonia with parkinsonism over a period of hours to days. 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 False 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 False 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 False 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
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. 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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