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:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of cerebrum NOS	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of cerebrum	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomalies of hypothalamus (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrum (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of corpus callosum	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Lobar holoprosencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Semi-lobar holoprosencephaly (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence of septum pellucidum (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemispheric cerebral agenesis	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial absence of septum pellucidum (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral cortical dysgenesis (disorder)	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrogyria	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cystic leucoencephalopathy without megalencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Cortical dysplasia	Is a	False	Anomalies of cerebrum	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	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly due to LIS1 mutation	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated arhinencephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectopic grey matter in centrum ovale	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)
Occipital encephalocele	Is a	False	Anomalies of cerebrum	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set

Back to Start

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
312890013	Anomalies of cerebrum	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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