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
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital hemiplegia (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leber's optic atrophy	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spinal hydromeningocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital syphilitic meningitis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital sixth nerve palsy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Malformation of central nervous system of fetus (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
hereditaire nefrogene diabetes insipidus (aandoening)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Late congenital neurosyphilis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Primary congenital glaucoma (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Progressive congenital rubella encephalomyelitis	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hemianencephaly	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Frontoethmoidal encephalocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital cerebral hernia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital porencephalic cyst (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital quadriplegia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital combined disorder of muscle and peripheral nerve (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital anomaly of nervous system	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital anosmia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Neu-Laxova syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Acrootoocular syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
FOXG1 syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Dementia with Down syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked non progressive cerebellar ataxia (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Action myoclonus renal failure syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spastic ataxia with congenital miosis	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
X-gebonden acromegalie	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Familial hyperprolactinemia	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 4 (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital meningocele	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant slowed nerve conduction velocity	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Familial focal epilepsy with variable foci	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
HIVEP2-related intellectual disability	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital trigeminal anesthesia (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Myosclerosis (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
hydromeningocele	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Late congenital syphilitic polyneuropathy (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Jawad syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Ptosis and vocal cord paralysis syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Congenital neurological disorder (disorder)	Inferred relationship	Some
Aganglionosis of large intestine (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	False	Congenital neurological disorder (disorder)	Inferred relationship	Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)	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)