702450004: FOXG1 syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\FOXG1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\FOXG1 syndrome

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\FOXG1 syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Disorder of head\Encephalopathy\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\FOXG1 syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\FOXG1 syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\FOXG1 syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\FOXG1 syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\FOXG1 syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\FOXG1 syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\FOXG1 syndrome

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995234010 Congenital variant of Rett syndrome (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core
2995373012 FOXG1 syndrome en Synonym Active Case sensitive SNOMED CT core
2995641011 Congenital variant of Rett syndrome en Synonym Inactive Initial character case insensitive SNOMED CT core
3038730013 FOXG1 syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FOXG1 syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
FOXG1 syndrome	Pathological process	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	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	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
FOXG1 syndrome	Is a	Congenital disease	false	Inferred relationship	Some
FOXG1 syndrome	Is a	Encephalopathy	false	Inferred relationship	Some
FOXG1 syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
FOXG1 syndrome	Is a	Pervasive developmental 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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked intellectual disability-psychosis-macroorchidism syndrome	Is a	False	FOXG1 syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Mental health disorder reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995234010	Congenital variant of Rett syndrome (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core
2995373012	FOXG1 syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2995641011	Congenital variant of Rett syndrome	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
3038730013	FOXG1 syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core