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95477007: Congenital degeneration 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
158152012 Congenital degeneration of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
158155014 Congenital neurological degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839638015 Congenital degeneration of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4730591000241118 dégénérescence congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital degeneration of nervous system Is a Congenital anomaly of nervous system true Inferred relationship Some
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Some
Congenital degeneration of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Congenital degeneration of nervous system Associated morphology Congenital degeneration false Inferred relationship Some 1
Congenital degeneration of nervous system Associated morphology Congenital degeneration false Inferred relationship Some 1
Congenital degeneration of nervous system Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Congenital degeneration of nervous system Is a Degenerative disorder true Inferred relationship Some
Congenital degeneration of nervous system Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Some 3
Congenital degeneration of nervous system Associated morphology dégénérescence false Inferred relationship Some 3
Congenital degeneration of nervous system Finding site Structure of nervous system (body structure) false Inferred relationship Some 3
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Some 2
Congenital degeneration of nervous system Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital degeneration of nervous system Associated morphology dégénérescence false Inferred relationship Some 1
Congenital degeneration of nervous system Occurrence Congenital true Inferred relationship Some 1
Congenital degeneration of nervous system Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital degeneration of nervous system Associated morphology Degenerative abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital chorioretinal degeneration Is a False Congenital degeneration of nervous system Inferred relationship Some
Aicardi's syndrome Is a False Congenital degeneration of nervous system Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Is a True Congenital degeneration of nervous system Inferred relationship Some
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Is a True Congenital degeneration of nervous system Inferred relationship Some
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Congenital degeneration of nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease, connatal variant Is a True Congenital degeneration of nervous system Inferred relationship Some
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Is a True Congenital degeneration of nervous system Inferred relationship Some
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Is a True Congenital degeneration of nervous system Inferred relationship Some
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Congenital degeneration of nervous system Inferred relationship Some
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Congenital degeneration of nervous system Inferred relationship Some
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Is a True Congenital degeneration of nervous system Inferred relationship Some
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Is a True Congenital degeneration of nervous system Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. Is a False Congenital degeneration of nervous system Inferred relationship Some
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Is a True Congenital degeneration of nervous system Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Is a True Congenital degeneration of nervous system Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 Is a True Congenital degeneration of nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease null syndrome Is a True Congenital degeneration of nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease in female carrier Is a True Congenital degeneration of nervous system Inferred relationship Some
A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. Is a True Congenital degeneration of nervous system Inferred relationship Some

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