1269233006: Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe intellectual disability (disorder)\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Finding of head region\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability (disorder)\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\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)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5183276013 Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5183277016 Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5183278014 A rare genetic syndrome with characteristics of cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, along with midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Macrogyria	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Type 1 lissencephaly	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	Severe intellectual disability (disorder)	true	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Finding site	Structure of cerebral gyrus (body structure)	true	Inferred relationship	Some	1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Finding site	Brainstem structure	true	Inferred relationship	Some	2
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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Id	Description	Lang	Type	Status	Case?	Module
5183276013	Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5183277016	Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5183278014	A rare genetic syndrome with characteristics of cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, along with midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core