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88425004: Congenital anomaly of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
146609011 Congenital anomaly of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146614010 Congenital disease of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146615011 Congenital lesion of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146616012 Congenital deformity of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
508025017 Congenital malformation of the nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831106014 Congenital anomaly of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
935541000195117 anomalia congenita del sistema nervoso it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
71291000077118 anomalie congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

627 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of nervous system Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
Congenital anomaly of nervous system Is a Congenital disease false Inferred relationship Some
Congenital anomaly of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Congenital anomaly of nervous system Occurrence Congenital false Inferred relationship Some
Congenital anomaly of nervous system Is a Disorder of nervous system (disorder) true Inferred relationship Some
Congenital anomaly of nervous system Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system Is a Neurological lesion false Inferred relationship Some
Congenital anomaly of nervous system Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
Congenital anomaly of nervous system Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Congenital anomaly of nervous system Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly of nervous system Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of nervous system Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of nervous system Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital anomaly of nervous system Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of nervous system Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of nervous system Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of nervous system Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Siris syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Spinobulbar atrophy Is a False Congenital anomaly of nervous system Inferred relationship Some
Late secondary abnormalities of the central nervous system Is a False Congenital anomaly of nervous system Inferred relationship Some
Syringomyelia (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Some
Neural tube defect Is a True Congenital anomaly of nervous system Inferred relationship Some
Abnormality of neurogenesis Is a True Congenital anomaly of nervous system Inferred relationship Some
Defect of telencephalic division Is a False Congenital anomaly of nervous system Inferred relationship Some
Disorder of neuronal migration and differentiation Is a False Congenital anomaly of nervous system Inferred relationship Some
Microdysgenesis Is a False Congenital anomaly of nervous system Inferred relationship Some
Dysgenesis of the cerebellum Is a False Congenital anomaly of nervous system Inferred relationship Some
Dysgenesis of the brainstem Is a False Congenital anomaly of nervous system Inferred relationship Some
Chiari malformation (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Some
Abnormality of canalization and retrogressive differentiation (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Some
Vascular malformation of the nervous system Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital malformation of the meninges Is a False Congenital anomaly of nervous system Inferred relationship Some
dysgénésie cérébrale Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital non-progressive ataxia Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of visual system Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of central nervous system Is a True Congenital anomaly of nervous system Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Is a False Congenital anomaly of nervous system Inferred relationship Some
syringomyélobulbie Is a False Congenital anomaly of nervous system Inferred relationship Some
Cockayne syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of the peripheral nervous system Is a True Congenital anomaly of nervous system Inferred relationship Some
Dubowitz's syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Some
De Lange syndrome Is a True Congenital anomaly of nervous system Inferred relationship Some
Cerebro-oculo-facio-skeletal syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Seckel syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Alstrom syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Sotos' syndrome Is a True Congenital anomaly of nervous system Inferred relationship Some
Angelman syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Beckwith-Wiedemann syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital degeneration of nervous system Is a True Congenital anomaly of nervous system Inferred relationship Some
Congenital flaccid paralysis Is a True Congenital anomaly of nervous system Inferred relationship Some
Syringomyelia and syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Some
Reduction deformities of brain Is a False Congenital anomaly of nervous system Inferred relationship Some
Anomalies of cerebrum Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital brain anomaly Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital spinal cord anomaly Is a False Congenital anomaly of nervous system Inferred relationship Some
Arachnoid / ependymal cyst Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of nervous system of head/neck Is a True Congenital anomaly of nervous system Inferred relationship Some
Other nervous system congenital anomalies Is a False Congenital anomaly of nervous system Inferred relationship Some
Other specified brain anomalies Is a False Congenital anomaly of nervous system Inferred relationship Some
Other specified nervous system anomalies Is a False Congenital anomaly of nervous system Inferred relationship Some
Unspecified nervous system anomaly of brain, cord and nervous system Is a False Congenital anomaly of nervous system Inferred relationship Some
Nervous system anomalies NOS Is a False Congenital anomaly of nervous system Inferred relationship Some
[X]Congenital malformations of the nervous system Is a False Congenital anomaly of nervous system Inferred relationship Some
[X]Other specified congenital malformations of brain Is a False Congenital anomaly of nervous system Inferred relationship Some
[X]Other specified congenital malformations of nervous system Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital CNS anomalies NOS Is a False Congenital anomaly of nervous system Inferred relationship Some
Neuronal choristoma Is a True Congenital anomaly of nervous system Inferred relationship Some
Congenital polyneuropathy Is a False Congenital anomaly of nervous system Inferred relationship Some
Ectopic gray matter Is a True Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of organ of Corti Is a False Congenital anomaly of nervous system Inferred relationship Some
Neurocutaneous syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Alstrom syndrome Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital anomaly of neural structure of trunk Is a True Congenital anomaly of nervous system Inferred relationship Some
Agenesis of nerve (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Some
Dysgenesis of the cerebellum Is a False Congenital anomaly of nervous system Inferred relationship Some
Cerebro-oculo-facio-skeletal syndrome Is a True Congenital anomaly of nervous system Inferred relationship Some
Angelman syndrome Is a True Congenital anomaly of nervous system Inferred relationship Some
syringomyélobulbie Is a False Congenital anomaly of nervous system Inferred relationship Some
Disorder of neuronal migration and differentiation Is a False Congenital anomaly of nervous system Inferred relationship Some
Syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Some
Dysgenesis of the brainstem Is a False Congenital anomaly of nervous system Inferred relationship Some
Defect of telencephalic division Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital athetosis Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital malformation of autonomic nervous system (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Some
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. Is a True Congenital anomaly of nervous system Inferred relationship Some
A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypo-pigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated. Is a True Congenital anomaly of nervous system Inferred relationship Some
Encephalocraniocutaneous lipomatosis (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Some
Congenital hypomyelinating neuropathy Is a True Congenital anomaly of nervous system Inferred relationship Some
Ecchordosis physaliphora Is a True Congenital anomaly of nervous system Inferred relationship Some
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. Is a True Congenital anomaly of nervous system Inferred relationship Some
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Is a True Congenital anomaly of nervous system Inferred relationship Some
Fibrous skin tumor of tuberous sclerosis Is a True Congenital anomaly of nervous system Inferred relationship Some
Pulmonary tuberous sclerosis (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Some
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. Is a True Congenital anomaly of nervous system Inferred relationship Some
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Is a True Congenital anomaly of nervous system Inferred relationship Some
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Is a True Congenital anomaly of nervous system Inferred relationship Some
Dysmorphic sialidosis, congenital form Is a True Congenital anomaly of nervous system Inferred relationship Some
Congenital anosmia Is a True Congenital anomaly of nervous system Inferred relationship Some
Hypogonadism with anosmia Is a True Congenital anomaly of nervous system Inferred relationship Some
Congenital absence of myelination of peripheral nerve (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Some

This concept is not in any reference sets

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