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702628006: Congenital anomaly of cerebrum (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3010181017 Congenital anomaly of cerebrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3010186010 Congenital anomaly of cerebrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5845141000241119 anomalie congénitale du cerveau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845151000241116 anomalie congénitale cérébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of cerebrum (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Finding site Entire cerebrum false Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Is a Anomalies of cerebrum false Inferred relationship Some
Congenital anomaly of cerebrum (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Is a Congenital anomaly of nervous system of head/neck false Inferred relationship Some
Congenital anomaly of cerebrum (disorder) Is a Congenital anomaly of brain true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesis of cerebrum Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Lobar holoprosencephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Cortical dysplasia Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Macrogyria Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Semi-lobar holoprosencephaly Is a True Congenital anomaly of cerebrum (disorder) 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 anomaly of cerebrum (disorder) Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Temporal encephalocele Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Parietal encephalocele Is a False Congenital anomaly of cerebrum (disorder) 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 anomaly of cerebrum (disorder) Inferred relationship Some
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. Is a False Congenital anomaly of cerebrum (disorder) 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 anomaly of cerebrum (disorder) Inferred relationship Some
Congenital cerebral hernia Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Ectopic gray matter in centrum ovale Is a True Congenital anomaly of cerebrum (disorder) 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 anomaly of cerebrum (disorder) Inferred relationship Some
Congenital malformation of corpus callosum Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Atelencephaly Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Cerebral cortical dysgenesis Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Occipital encephalocele Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital abnormal shape of cerebrum Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital hypoplasia of cerebrum Is a True Congenital anomaly of cerebrum (disorder) 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 anomaly of cerebrum (disorder) Inferred relationship Some
Absence of septum pellucidum Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Hemispheric cerebral agenesis Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Partial absence of septum pellucidum (disorder) Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Anomalies of hypothalamus Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital porencephalic cyst (disorder) Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Defect of telencephalic division Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Alobar holoprosencephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Schizencephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Colpocephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Microdysgenesis Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Kundrat's syndrome Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Hydranencephaly Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Status marmoratus Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Middle interhemispheric variant of holoprosencephaly (disorder) Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. Is a False Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Macroencephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Bilateral frontal polymicrogyria Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Bilateral generalized polymicrogyria (disorder) Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Bilateral parasagittal parieto-occipital polymicrogyria Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Subcortical nodular heterotopia (disorder) Is a True Congenital anomaly of cerebrum (disorder) 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 cerebrum (disorder) 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 True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy). Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital anomaly of pituitary gland Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Focal cortical dysplasia with abnormal architectural distortion of cortical layer Blumcke type III (disorder) Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Hemicephaly Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital cyst of cerebrum Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some
Congenital dysplasia of fronto-parietal cortex (disorder) Is a True Congenital anomaly of cerebrum (disorder) Inferred relationship Some

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