43181000146109: congenitale neuropathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)

\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2018. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital neurological disorder (disorder)	Is a	Disorder of nervous system (disorder)	true	Inferred relationship	Some
Congenital neurological disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital neurological disorder (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital neurological disorder (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital neurological disorder (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Crisponi syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Folinic acid responsive seizure syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Duane's syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Late congenital neurovascular syphilis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital hypogonadotropic hypogonadism (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Inherited metabolic disorder of nervous system	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital neuromuscular junction disorder	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital disorder of facial nerve	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Odontoleukodystrophy (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Isolated follicle stimulating hormone deficiency	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital sensory neuropathy with selective loss of small myelinated fibres	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital obstruction of aqueduct of Sylvius	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital spastic foot	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Brain calcification Rajab type (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Progressive supranuclear palsy	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Dermatoleukodystrophy	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital aganglionic megacolon	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Bregeat's syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Temporal encephalocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital cerebellar cortical atrophy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
HSMN IV	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital syringomyelia (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Combined pituitary hormone deficiency genetic form (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Bertolotti's syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital endaural hernia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalomyelocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Myelocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Parietal encephalocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Sinus pericranii	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital leptomeningeal angiomatosis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Rud's syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Thyrotoxicosis due to pituitary thyroid hormone resistance	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Macrocolon	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hereditary hyperekplexia (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital dysphasia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Frontal encephalocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital syphilitic encephalitis (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
choroïderemie gelijktijdig met hypopituïtarisme (aandoening)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital hypertonia (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
congenitale neuropathie met arthrogryposis multiplex congenita	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Familial isolated pituitary adenoma	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital ischemic atrophy of central nervous system structure	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital pseudobulbar palsy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital pseudoporencephaly	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Occipital meningocele (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spinocerebellar ataxia type 34 (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital brain damage	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Kohlschutter's syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cerebral lipidosis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Nonfamilial asexual dwarfism	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital paraplegia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Nonruptured congenital aneurysm of cerebral artery	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
732011000146110	Congenital neurological disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
732021000146117	Congenital neurological disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8918561000146111	aangeboren aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12572841000146116	congenitale neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12572851000146118	congenitale neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12572861000146115	congenitale neurologische afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)