721015008: Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\...

\Structural disorder of heart\Endocardial fibroelastosis\Congenital endocardial fibroelastosis\HEC syndrome
\Structural disorder of heart\Congenital heart disease\Congenital endocardial fibroelastosis\HEC syndrome

\Disorder of endocardium\Endocardial fibroelastosis\Congenital endocardial fibroelastosis\HEC syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\HEC syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\HEC syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\HEC syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\HEC syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome

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

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Communicating hydrocephalus\HEC syndrome
\Hydrocephalus\Congenital hydrocephalus\HEC syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\HEC syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\HEC syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\HEC syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\HEC syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\HEC syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\HEC syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\HEC syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\HEC syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\HEC syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\HEC syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323050014 Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323051013 Hydrocephalus with endocardial fibroelastosis and cataract syndrome en Synonym Active Case insensitive SNOMED CT core

3323052018 HEC syndrome en Synonym Active Case sensitive SNOMED CT core

3780953013 HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome en Synonym Active Case sensitive SNOMED CT core

3323054017 Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. en Definition Active Case sensitive SNOMED CT core

3323055016 Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HEC syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	3
HEC syndrome	Is a	Congenital heart disease	false	Inferred relationship	Some
HEC syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
HEC syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
HEC syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
HEC syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
HEC syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
HEC syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
HEC syndrome	Associated morphology	Fibroelastosis	true	Inferred relationship	Some	2
HEC syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
HEC syndrome	Finding site	Endocardium structure	true	Inferred relationship	Some	2
HEC syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
HEC syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
HEC syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	3
HEC syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	3
HEC syndrome	Is a	Congenital endocardial fibroelastosis	true	Inferred relationship	Some
HEC syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
HEC syndrome	Is a	Endocardial fibroelastosis	false	Inferred relationship	Some
HEC syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
HEC syndrome	Is a	Communicating hydrocephalus	true	Inferred relationship	Some
HEC syndrome	Finding site	Cardiac internal structure	false	Inferred relationship	Some
HEC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
HEC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
HEC syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	6
HEC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
HEC syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	6
HEC syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	4
HEC syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	4
HEC syndrome	Associated morphology	Fibroelastosis	false	Inferred relationship	Some	5
HEC syndrome	Finding site	Endocardium structure	false	Inferred relationship	Some	5
HEC syndrome	Is a	Congenital cardiovascular disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323050014	Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323051013	Hydrocephalus with endocardial fibroelastosis and cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323052018	HEC syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3780953013	HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323054017	Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.	en	Definition	Active	Case sensitive	SNOMED CT core
3323055016	Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.	en	Definition	Active	Case sensitive	SNOMED CT core