702628006: Congenital anomaly of cerebrum (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of cerebrum (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of cerebrum (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of cerebrum (disorder)	Finding site	Entire cerebrum (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of cerebrum (disorder)	Is a	Anomalies of cerebrum	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrum (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of cerebrum (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of cerebrum (disorder)	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrum (disorder)	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of cerebrum	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lobar holoprosencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cortical dysplasia	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrogyria	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cystic leucoencephalopathy without megalencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Semi-lobar holoprosencephaly (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Temporal encephalocele	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Parietal encephalocele (disorder)	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated arhinencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cerebral hernia	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly due to LIS1 mutation	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectopic grey matter in centrum ovale	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of corpus callosum	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelencephaly	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterised 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	Existential restriction modifier (core metadata concept)
Cerebral cortical dysgenesis (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Occipital encephalocele	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of cerebrum	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of cerebrum	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence of septum pellucidum (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemispheric cerebral agenesis	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial absence of septum pellucidum (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Anomalies of hypothalamus (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porencephalic cyst (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Defect of telencephalic division	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alobar holoprosencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Schizencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Colpocephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microdysgenesis	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Kundrat's syndrome	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydranencephaly (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Status marmoratus	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Middle interhemispheric variant of holoprosencephaly	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Is a	False	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Macroencephaly (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral frontal polymicrogyria	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral frontoparietal polymicrogyria (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral generalized polymicrogyria (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bilateral parasagittal parieto-occipital polymicrogyria (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Subcortical nodular heterotopia (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tubulinopathy-associated dysgyria (disorder)	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Polymicrogyria due to TUBB2B mutation	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aprosencephaly/atelencephaly spectrum	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of pituitary gland	Is a	True	Congenital anomaly of cerebrum (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
3010181017	Congenital anomaly of cerebrum (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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