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\Beemer Ertbruggen 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\Beemer Ertbruggen 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\Beemer Ertbruggen 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\Beemer Ertbruggen 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\Beemer Ertbruggen 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\Beemer Ertbruggen syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Beemer Ertbruggen 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\Beemer Ertbruggen 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\Beemer Ertbruggen syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Beemer Ertbruggen 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\Beemer Ertbruggen syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Beemer Ertbruggen syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Beemer Ertbruggen syndrome

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

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

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Beemer Ertbruggen syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Beemer Ertbruggen syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Beemer Ertbruggen syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Beemer Ertbruggen syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Beemer Ertbruggen syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Beemer Ertbruggen syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Beemer Ertbruggen syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Beemer Ertbruggen syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Beemer Ertbruggen syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Beemer Ertbruggen syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Beemer Ertbruggen syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Beemer Ertbruggen syndrome

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3324363016 Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324364010 Hydrocephalus, cardiac malformation, dense bone syndrome en Synonym Active Case insensitive SNOMED CT core

3324365011 Beemer Ertbruggen syndrome en Synonym Active Case sensitive SNOMED CT core

3324366012 Beemer lethal malformation syndrome en Synonym Active Case sensitive SNOMED CT core

3324367015 A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beemer Ertbruggen syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Beemer Ertbruggen syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Beemer Ertbruggen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Beemer Ertbruggen syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Beemer Ertbruggen syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Beemer Ertbruggen syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Beemer Ertbruggen syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Beemer Ertbruggen syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2
Beemer Ertbruggen syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Beemer Ertbruggen syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	4
Beemer Ertbruggen syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Beemer Ertbruggen syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	4
Beemer Ertbruggen syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Beemer Ertbruggen syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Beemer Ertbruggen syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	5
Beemer Ertbruggen syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	3
Beemer Ertbruggen syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	3

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
3324363016	Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324364010	Hydrocephalus, cardiac malformation, dense bone syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324365011	Beemer Ertbruggen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324366012	Beemer lethal malformation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324367015	A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Case sensitive	SNOMED CT core