88425004: Congenital anomaly of nervous system (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system

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

\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of nervous system	Is a	Kongenitte anomalier og udviklingsanomalier i nervesystemet	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	kongenit anomali	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	Kongenitte anomalier og udviklingsanomalier i nervesystemet	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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of nervous system	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital anomaly of nervous system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of nervous system	Associated morphology	dysgenese	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
Spinobulbær atrofi	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
Sene sekundære abnormiteter i centralnervesystemet	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
Syringomyelia	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 (disorder)	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	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
Cerebral dysgenese	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 with characteristics of 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. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
Syringomyelobulbi	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
reduktionsdeformiteter af hjernen	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
cerebrale anomalier	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
Arachnoidea-/ependymacyste	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
andre kongenitte nervesystemsanomalier	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
andre specificerede cerebrale anomalier	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
Andre specificerede anomalier af nervesystemet	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
uspecificeret nervesystemanomali i hjernen, rygmarven og nervesystemet	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
nervesystemanomalier, ikke nærmere specificeret	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
Kongenitte anomalier i centralnervesystemet, ikke nærmere specificeret	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	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
Syringomyelobulbi	Is a	False	Congenital anomaly of nervous system	Inferred relationship	Some
Disorder of neuronal migration and differentiation (disorder)	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. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example 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). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Is a	True	Congenital anomaly of nervous system	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis	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 very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	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
A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-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

This concept is not in any reference sets

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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
2579631000005114	Kongenit anomali i nervesystem	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)