204042007: Congenital malformation of corpus callosum (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of corpus callosum	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Congenital malformation of corpus callosum	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of corpus callosum	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Finding site	Corpus callosum structure	true	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Finding site	Corpus callosum structure	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital malformation of corpus callosum	Finding site	Corpus callosum structure	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation of corpus callosum	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital malformation of corpus callosum	Is a	cerebrale anomalier	false	Inferred relationship	Some
Congenital malformation of corpus callosum	Finding site	Corpus callosum structure	false	Inferred relationship	Some	2
Congenital malformation of corpus callosum	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Is a	Leukoencephalopathy	true	Inferred relationship	Some
Congenital malformation of corpus callosum	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital malformation of corpus callosum	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
dysgenese af corpus callosum	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Atrophy of corpus callosum	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Agenesis of corpus callosum	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Aplasia of corpus callosum	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
anomali af corpus callosum, ikke nærmere specificeret	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Agenesis of corpus callosum	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Partial agenesis of corpus callosum	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
Hypoplasia of corpus callosum	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Is a	False	Congenital malformation of corpus callosum	Inferred relationship	Some
An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families.	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.	Is a	True	Congenital malformation of corpus callosum	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
312893010	Congenital malformation of corpus callosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589215014	Congenital malformation of corpus callosum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006537015	Congenital anomaly of corpus callosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3036180019	Dysgenesis of corpus callosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1694221000005112	kongenit malformation af corpus callosum	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)
4941901000005114	kongenit misdannelse af corpus callosum	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)