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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (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
• \Head finding (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
• \Head finding (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
• \Head finding (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
• \Head finding (finding)\Finding of head region\Macrogyria\Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \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 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 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
• \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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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 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 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\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
5400688019	A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as 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
5400689010	A rare genetic syndrome with a central nervous system malformation as a major feature, characterised by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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