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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
Microcephaly-capillary malformation syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tuberous sclerosis syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dentatorubropallidoluysian degeneration Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial membrane protein associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroretinal microangiopathy with calcifications and cysts Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia co-occurrent with hypopituitarism Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 2 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism Toriello type Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of cerebellum and hydrocephalus syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leigh's disease Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sellars Beighton syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly syndrome Norman Roberts type Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-polyposis Turcot syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Behavioural variant of frontotemporal dementia Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
L1 syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary geniospasm (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Behr syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial dystonia (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gerstmann-Straussler-Scheinker syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial Creutzfeldt-Jakob (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 7 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 5 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 4 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 8 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lattice corneal dystrophy Type II Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with ataxia and apraxia syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked neurodegenerative syndrome Bertini type (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cavitating leucoencephalopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus cleft palate syndrome (disorder) Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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