57148006: Congenital anomaly of brain (disorder)

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

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

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

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

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 brain	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of central nervous system	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of brain	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital anomaly of brain	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of brain	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of brain	Finding site	Brain structure	true	Inferred relationship	Some	1
Congenital anomaly of brain	Is a	Congenital absence of the spinal cord and brain	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Congenital anomaly of brain	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of brain	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of brain	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of brain	Finding site	Brain structure	false	Inferred relationship	Some	2
Congenital anomaly of brain	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of brain	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of corpus callosum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dyke-Davidoff-Masson syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital agenesis of brainstem nuclei	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cranial hydromeningocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebellar cortical atrophy	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebral cyst	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Macrogyria (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Aqueduct of Sylvius anomaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Agyria	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital absence of part of brain	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Atresia of foramen of Magendie	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Holoprosencephaly sequence	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital ischemic atrophy of central nervous system structure	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebral cortical dysgenesis	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital syphilitic encephalitis	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebral meningocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Encefalooftalmisk dysplasi	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital porencephaly	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Multiple anomalies of brain	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebellar aplasi	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital hydrocephalus	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital pseudoporencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microgyria	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Sinus pericranii	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Ectopic gray matter in centrum ovale	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Encephalocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Nasal glial heterotopia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Ulegyria	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Atresia of foramen of Luschka	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Status marmoratus	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebellar hemangioblastomatosis	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hydromicrocephaly	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital hypoplasia of part of brain	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital leptomeningeal angiomatosis	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Exencephaly	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Dural arteriovenous malformation (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Anencephalus	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital abnormal shape of cerebellum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital abnormal shape of cerebrum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hypogonadism with anosmia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital brain damage	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Macroencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebellar cortical atrophy (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Coffin-Siris syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Persistent cerebral embryonic artery	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebral arteriovenous malformation	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Temporal encephalocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Parietal encephalocele (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Defect of telencephalic division	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cortical dysplasia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Colpocephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dysgenesis of the brainstem	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Chiari malformation	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Bregeat's syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Atelencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Aprosencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hydrencefalomeningocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Borjeson-Forssman-Lehmann syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Dubowitz's syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Hemorrhage due to ruptured congenital cerebral aneurysm	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Occipital encephalocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Meningoencephalocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Encephalocystocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Nasal encephalocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital anomaly of cerebrovascular system	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital anomaly of pituitary gland (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Kranielt hydromeningocele	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
reduktionsdeformiteter af hjernen	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
cerebrale anomalier	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cebocephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Foramen of Magendie atresia (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Foramen of Luschka atresia (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Multiple brain anomalies	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Anomalier af cerebrovaskulære system	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital arteriovenous fistula of brain	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebral hernia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hydrocephalus associated with congenital aqueduct stenosis	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Agenesis of corpus callosum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Lissencephaly	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital abnormal shape of cerebellum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebellar cortical dysplasia (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dentate dysplasia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital stenosis of aqueduct of Sylvius	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital obstruction of aqueduct of Sylvius	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dysgenesis of the cerebellum	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital absence of the spinal cord and brain	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Schizencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Laminar heterotopia	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Nodular heterotopia (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Syringobulbia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Holoprosencephaly sequence	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
dysgenese af corpus callosum	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Mikrocefalisk osteodysplastisk dysplasi	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hydromicrocephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
95042019	Congenital anomaly of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95047013	Deformity of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95049011	Congenital disease of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795738018	Congenital anomaly of brain (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478759015	Congenital brain anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3003291000005111	kongenit hjerneanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)