702450004: FOXG1-syndroom (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\FOXG1 syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\FOXG1 syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\FOXG1 syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\FOXG1 syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\FOXG1 syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FOXG1 syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\FOXG1 syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 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\FOXG1 syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\FOXG1 syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\FOXG1 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\FOXG1 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\FOXG1 syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\FOXG1 syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\FOXG1 syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\FOXG1 syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FOXG1 syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
FOXG1 syndrome	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
FOXG1 syndrome	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
FOXG1 syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
FOXG1 syndrome	Is a	Pervasive developmental disorder (disorder)	true	Inferred relationship	Some
FOXG1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
FOXG1 syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
FOXG1 syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
FOXG1 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
FOXG1 syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
FOXG1 syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
FOXG1 syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
FOXG1 syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
FOXG1 syndrome	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
PPM-X syndrome	Is a	False	FOXG1 syndrome	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
2995373012	FOXG1 syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3038730013	FOXG1 syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6800771000146113	FOXG1-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6800781000146110	FOXG1-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6939671000146110	Rett-like syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6939681000146112	atypisch syndroom van Rett	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)