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
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Inherited congenital spastic tetraplegia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital sacral meningocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Familial congenital mirror movements	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
PPM-X syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Gillespie syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked acrogigantism due to Xq26 microduplication	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital central hypoventilation	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
congenitale uitval van nervus facialis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Neurocutaneous melanosis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Aspartylglucosaminuria	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hereditary cavernous hemangioma of brain (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Neurocutaneous syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital isolated growth hormone deficiency	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Lipoma due to neurospinal dysraphism	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Fried syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked neurodegenerative syndrome Bertini type (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Progressive congenital rubella encephalitis (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Christianson syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital palsy of trochlear nerve (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital oculomotor nerve palsy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital fibrosis syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital horizontal gaze palsy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Maroteaux-Lamy syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Amyotonia congenita	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
GM1 gangliosidosis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalopathy due to prosaposin deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Thiamine-responsive encephalopathy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Sialidosis type 1 (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Mucolipidosis type IV (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Lipoic acid synthetase deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Combined oxidative phosphorylation defect type 11	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Navajo neurohepatopathy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 3	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital pseudopapilledema (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital hydrocephalus caused by toxoplasmosis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalocele	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Dysequilibrium syndrome	Is a	True	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)