FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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

1219 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
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial infantile myoclonic epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 1 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial epilepsy with auditory features Is a True Hereditary disorder of nervous system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Genetically determined myasthenia Is a True Hereditary disorder of nervous system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Amyotonia congenita Is a True Hereditary disorder of nervous system Inferred relationship Some
Huntington's chorea Is a False Hereditary disorder of nervous system Inferred relationship Some
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
PPM-X 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Marinesco-Sjögren syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 2 Is a False Hereditary disorder of nervous system Inferred relationship Some
Neurofibromatosis type 1 Is a True Hereditary disorder of nervous system Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Hereditary disorder of nervous system Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) 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 (disorder) 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 (disorder) 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
Hereditary ataxia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Acute neuronopathic Gaucher's disease Is a False 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial porencephaly (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) 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
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) 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
X-linked panhypopituitarism (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary growth hormone deficiency (disorder) 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 rotatin deficiency (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 10 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some

Start Previous Page 6 of 7 End

This concept is not in any reference sets

Back to Start