204039001: Anomalies of cerebrum (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

312890013 Anomalies of cerebrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

589212012 Anomalies of cerebrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662349016 Cerebral dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomalies of cerebrum	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Anomalies of cerebrum	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Anomalies of cerebrum	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Anomalies of cerebrum	Occurrence	Congenital	false	Inferred relationship	Some
Anomalies of cerebrum	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.	false	Inferred relationship	Some	1
Anomalies of cerebrum	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Anomalies of cerebrum	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomalies of cerebrum	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.	false	Inferred relationship	Some	1
Anomalies of cerebrum	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomalies of cerebrum	Occurrence	Congenital	false	Inferred relationship	Some	2
Anomalies of cerebrum	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Anomalies of cerebrum	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Some
Anomalies of cerebrum	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.	false	Inferred relationship	Some	2
Anomalies of cerebrum	Occurrence	Congenital	false	Inferred relationship	Some	1
Anomalies of cerebrum	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Anomalies of cerebrum	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Anomaly of cerebrum NOS	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Congenital abnormal shape of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Congenital hypoplasia of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Atelencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Anomalies of hypothalamus	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Congenital anomaly of cerebrum (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Congenital malformation of corpus callosum	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Lobar holoprosencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Semi-lobar holoprosencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Absence of septum pellucidum	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Hemispheric cerebral agenesis	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Partial absence of septum pellucidum (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Cerebral cortical dysgenesis	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Some
Macrogyria	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Some
Cortical dysplasia	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	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	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Some
Ectopic gray matter in centrum ovale	Is a	False	Anomalies of cerebrum	Inferred relationship	Some
Occipital encephalocele	Is a	False	Anomalies of cerebrum	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
312890013	Anomalies of cerebrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589212012	Anomalies of cerebrum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662349016	Cerebral dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core