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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
Hereditary degenerative disease of central nervous system Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign hereditary chorea Is a True Hereditary disorder of nervous system Inferred relationship Some
Schwartz-Jampel syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Saldino-Mainzer dysplasia Is a False Hereditary disorder of nervous system Inferred relationship Some
Inherited optic neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Meretoja syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Seckel syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary essential tremor Is a True Hereditary disorder of nervous system Inferred relationship Some
Neu-Laxova syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Marinesco-Sjögren syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 2 Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 1 Is a True Hereditary disorder of nervous system Inferred relationship Some
Moynahan syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Woodhouse Sakati syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Periventricular nodular heterotopia Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Primary inherited reading epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of nervous system Inferred relationship Some
Neuropathy in association with hereditary ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Megalencephaly capillary malformation Is a True Hereditary disorder of nervous system Inferred relationship Some
Proteus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Bilateral frontoparietal polymicrogyria Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial spinal neurofibromatosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Type 3 lissencephaly 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
Hereditary ataxia Is a True Hereditary disorder of nervous system Inferred relationship Some
Acute neuronopathic Gaucher's disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Endosteal hyperostoses with cerebellar hypoplasia Is a True Hereditary disorder of nervous system Inferred relationship Some
Aspartylglucosaminuria Is a False Hereditary disorder of nervous system Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase Is a False Hereditary disorder of nervous system Inferred relationship Some
Choroid plexus carcinoma Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked distal hereditary motor neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
XK aprosencephaly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial porencephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
MARCH syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Is a True Hereditary disorder of nervous system Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Hereditary disorder of nervous system Inferred relationship Some
TBCK-related intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Fried syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Hereditary disorder of nervous system Inferred relationship Some
CLCN4-related X-linked intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked immunoneurologic disorder Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Acyl-CoA oxidase deficiency Is a False Hereditary disorder of nervous system Inferred relationship Some
Panhypopituitarism - X-linked Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontine autosomal dominant microangiopathy with leucoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Hyperphenylalanineaemia due to DNAJC12 deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Kallman syndrome with heart disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
HTRA1-related autosomal dominant cerebral small vessel disease Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary growth hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 1 Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 3 Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 9 Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial congenital palsy of trochlear nerve Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 10 Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Polymicrogyria due to TUBB2B mutation Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 7 Is a True Hereditary disorder of nervous system Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary dystonia DYT27 type Is a True Hereditary disorder of nervous system Inferred relationship Some
Giant axonal neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Some
SYNGAP1-related developmental and epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
PRUNE1-related neurological syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 9 Is a True Hereditary disorder of nervous system Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Lethal brain and heart developmental defects syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of nervous system Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary continuous muscle fibre activity Is a True Hereditary disorder of nervous system Inferred relationship Some
Benign familial neonatal-infantile seizures Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome 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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