128124001: Congenital anomaly of central nervous system (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of central nervous system	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Congenital anomaly of central nervous system	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of central nervous system	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectopic gray matter	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Fetal malformation of central nervous system affecting obstetrical care	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of brain	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital absence of the spinal cord and brain	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of spinal cord	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of optic nerve	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Disorder of neuronal migration and differentiation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital malformation of the meninges	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Cockayne syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
hydroméningocèle	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Ectopic glial tissue	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Ecchordosis physaliphora	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital adhesions of brain meninges	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Persistent cerebral embryonic artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Cerebral arteriovenous malformation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Cilioretinal artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Bregeat's syndrome	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital cerebral arteriovenous aneurysm	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of cerebral artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Vein of Galen malformation (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of organ of Corti	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of brain	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Dural arteriovenous malformation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital arteriovenous fistula of brain	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of cerebrovascular system	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Fetus with central nervous system malformation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital absence of the spinal cord and brain	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Disorder of neuronal migration and differentiation	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
syndrome de gigantisme cérébral-kystes maxillaires	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Oro-facial digital syndrome type 12	Is a	True	Congenital anomaly of central 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 anomaly of central nervous system	Inferred relationship	Some
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease null syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Hypoplasia of optic nerve due to central nervous system malformation	Due to	True	Congenital anomaly of central nervous system	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease in female carrier	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (including plagio/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Myelinated nerve fiber layer of retina	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Neurocutaneous melanosis	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital hypoplasia of corticospinal tract (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
194718019	Congenital anomaly of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732087017	Congenital anomaly of central nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006521014	Congenital malformation of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1879191000195110	anomalia congenita del sistema nervoso centrale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5891121000241118	anomalie congénitale du système nerveux central	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5891131000241116	malformation du SNC (système nerveux central)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
155331000274118	Angeborene Fehlbildung des ZNS	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
476201000274110	Kongenitale Anomalie des zentralen Nervensystems	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
670071000274111	Angeborene Fehlbildung des zentralen Nervensystems	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module