719400000: Lethal faciocardiomelic dysplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Viscus structure finding (finding)\Cardiac finding\...
• \Finding of left side of heart (finding)\An extremely rare polymalformative syndrome.
• \Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \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\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \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\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \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\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \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\An extremely rare polymalformative syndrome.
• \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 (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Finding of left side of heart (finding)\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \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\An extremely rare polymalformative syndrome.
• \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 (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \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\An extremely rare polymalformative syndrome.
• \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 (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Cardiovascular finding\Cardiac finding\Finding of left side of heart (finding)\An extremely rare polymalformative syndrome.
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\An extremely rare polymalformative syndrome.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \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 (disorder)\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Developmental hereditary disorder\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\An extremely rare polymalformative syndrome.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\An extremely rare polymalformative syndrome.

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
5402089018	An extremely rare polymalformative syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316217010	Lethal faciocardiomelic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316218017	Lethal faciocardiomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
959831000172118	dysplasie facio-cardio-mélique létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391321001000118	Dysplasie, faziokardiomele letale	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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