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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (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 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324364010	Hydrocephalus, cardiac malformation, dense bone syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324365011	Beemer Ertbruggen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324366012	Beemer lethal malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401624010	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401625011	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterised by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324363016	Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324363016	Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324364010	Hydrocephalus, cardiac malformation, dense bone syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324364010	Hydrocephalus, cardiac malformation, dense bone syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324365011	Beemer Ertbruggen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324366012	Beemer lethal malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401624010	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401625011	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterised by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442401001000113	Beemer-Ertbruggen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013461000241115	syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013461000241115	syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442401001000113	Beemer-Ertbruggen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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