719400000: Lethal faciocardiomelic dysplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Viscus structure finding (finding)\Cardiac finding\...
• \Finding of left side of heart (finding)\Lethal faciocardiomelic dysplasia (disorder)
• \Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Finding of left side of heart (finding)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Cardiovascular finding\Cardiac finding\Finding of left side of heart (finding)\Lethal faciocardiomelic dysplasia (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (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)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \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\Lethal faciocardiomelic dysplasia (disorder)
• \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\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lethal faciocardiomelic dysplasia (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
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
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	Only initial character case insensitive (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	Only initial character 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
3316219013	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402089018	An extremely rare polymalformative syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3391321001000118	Dysplasie, faziokardiomele letale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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
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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