715780008: Lissencephaly type 1 due to doublecortin gene mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \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\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303689011	Lissencephaly type 1 due to doublecortin gene mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303690019	Lissencephaly type 1 due to doublecortin gene mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303691015	X-linked lissencephaly type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401091012	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401092017	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.	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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