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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
GRN-related frontotemporal dementia Is a False Hereditary disorder of nervous system Inferred relationship Some
Hereditary diffuse leukoencephalopathy with spheroids Is a True Hereditary disorder of nervous system Inferred relationship Some
Frontotemporal dementia with parkinsonism-17 Is a True 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Ataxia with vitamin E deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
FOXG1 syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Kohlschutter's syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 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
Von Hippel-Lindau syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary neurocutaneous angiomata Is a True Hereditary disorder of nervous system Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Mowat-Wilson syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a False Hereditary disorder of nervous system Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a True 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 Is a False Hereditary disorder of nervous system Inferred relationship Some
Dentatorubropallidoluysian degeneration 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
Hypomagnesaemia with secondary hypocalcaemia Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial membrane protein associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraparesis and deafness Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant dopa responsive dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Acrocallosal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Waardenburg Shah syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
MacDermot Winter syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia and ectodermal dysplasia Is a False Hereditary disorder of nervous system Inferred relationship Some
Choroideraemia hypopituitarism Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a False Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 Is a True Hereditary disorder of nervous system Inferred relationship Some
Bedouin spastic ataxia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Toriello type Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a False Hereditary disorder of nervous system Inferred relationship Some
Seemanova Lesny syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Is a True Hereditary disorder of nervous system Inferred relationship Some
Generalised epilepsy and paroxysmal dyskinesia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Boucher Neuhäuser syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Leigh's disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Morse Rawnsley Sargent syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Game Friedman Paradice syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant late onset Parkinson disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Sellars Beighton syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked epilepsy with learning disability and behaviour disorder syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign adult familial myoclonic epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Folinic acid responsive seizure syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia Cayman type Is a False Hereditary disorder of nervous system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly syndrome Norman Roberts type Is a True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive primary microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Some
Non-polyposis Turcot syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Behavioural variant of frontotemporal dementia Is a False Hereditary disorder of nervous system Inferred relationship Some
L1 syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Joubert syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary cavernous haemangioma of brain Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary geniospasm Is a True Hereditary disorder of nervous system Inferred relationship Some
Combined pituitary hormone deficiency genetic form Is a True Hereditary disorder of nervous system Inferred relationship Some
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Behr syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Maternally inherited mitochondrial dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial Creutzfeldt-Jakob Is a False Hereditary disorder of nervous system Inferred relationship Some
Moyamoya disease with early onset achalasia Is a True Hereditary disorder of nervous system Inferred relationship Some
Juvenile amyotrophic lateral sclerosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Achalasia microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Aase Smith type 1 syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 7 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 6 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 5 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 4 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 3 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 1 Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontocerebellar hypoplasia type 8 Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lattice corneal dystrophy Type II Is a False Hereditary disorder of nervous system Inferred relationship Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type Is a False Hereditary disorder of nervous system Inferred relationship Some
VACTERL syndrome with hydrocephalus Is a True 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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