717859007: Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome

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

\Finding of brain\Disorder of brain\...

\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disorder of head\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of head\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Hydrocephalus, cardiac malformation, dense bone syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3324363016 Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3324364010 Hydrocephalus, cardiac malformation, dense bone syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3324365011 Beemer Ertbruggen syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3324366012 Beemer lethal malformation syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	4
Hydrocephalus, cardiac malformation, dense bone syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Structure of brain cerebrospinal fluid pathway	false	Inferred relationship	Existential restriction modifier	4
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Hydrocephalus, cardiac malformation, dense bone syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier	5
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Structure of brain cerebrospinal fluid pathway	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, cardiac malformation, dense bone syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, cardiac malformation, dense bone syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, cardiac malformation, dense bone syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, cardiac malformation, dense bone syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, cardiac malformation, dense bone syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, cardiac malformation, dense bone syndrome	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, cardiac malformation, dense bone syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3324363016	Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3324364010	Hydrocephalus, cardiac malformation, dense bone syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3324365011	Beemer Ertbruggen syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3324366012	Beemer lethal malformation syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module