253147000: Type 1 lissencephaly (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)

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
Type 1 lissencephaly (disorder)	Is a	Lissencephaly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Type 1 lissencephaly (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Type 1 lissencephaly (disorder)	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type 1 lissencephaly (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type 1 lissencephaly (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type 1 lissencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Type 1 lissencephaly (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Type 1 lissencephaly (disorder)	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Type 1 lissencephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Type 1 lissencephaly (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Miller Dieker syndrome	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated lissencephaly type 1 without known genetic defect	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly syndrome Norman Roberts type	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lissencephaly due to LIS1 mutation	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Type 1 lissencephaly (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
377034014	Type 1 lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701277019	Classic lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
377034014	Type 1 lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
377034014	Type 1 lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701277019	Classic lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434881001000111	Lissenzephalie, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5068991000241111	lissencéphalie type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5068991000241111	lissencéphalie type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434881001000111	Lissenzephalie, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module