204036008: Lissencephaly (disorder)

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

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly

Status: current, Not 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
Lissencephaly	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Lissencephaly	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Lissencephaly	Is a	Disorder of neuronal migration and differentiation	true	Inferred relationship	Some
Lissencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some
Lissencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Lissencephaly	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Lissencephaly	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Lissencephaly	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Lissencephaly	Finding site	Brain structure	true	Inferred relationship	Some	1
Lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some	2
Lissencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Lissencephaly	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Lissencephaly	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Lissencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Lissencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Lissencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lissencephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Type 1 lissencephaly	Is a	True	Lissencephaly	Inferred relationship	Some
Type 2 lissencephaly	Is a	True	Lissencephaly	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Is a	True	Lissencephaly	Inferred relationship	Some
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	Is a	True	Lissencephaly	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.	Is a	True	Lissencephaly	Inferred relationship	Some
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	Is a	False	Lissencephaly	Inferred relationship	Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	Is a	True	Lissencephaly	Inferred relationship	Some
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	Is a	True	Lissencephaly	Inferred relationship	Some
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Is a	True	Lissencephaly	Inferred relationship	Some
Type 3 lissencephaly	Is a	True	Lissencephaly	Inferred relationship	Some
Microlissencephaly	Is a	True	Lissencephaly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
312882013	Lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
312883015	Agyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
312884014	Lissencephaly pachygyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
312885010	Lissencephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589208018	Lissencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5581000172115	lissencéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440791001000111	Lissenzephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module