763839005: Neonatal Marfan syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Finding of neonate\Neonatal disorder\Neonatal cardiovascular disorder\Neonatal Marfan syndrome
• \Cardiovascular finding\Cardiovascular disease\...
• \Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
• \Neonatal cardiovascular disorder\Neonatal Marfan syndrome
• \Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neonatal Marfan syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Marfan's syndrome\Neonatal Marfan syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marfan's syndrome\Neonatal Marfan syndrome
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal cardiovascular disorder\Neonatal Marfan syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Neonatal cardiovascular disorder\Neonatal Marfan syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Marfan's syndrome\Neonatal Marfan syndrome
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Neonatal Marfan syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
• \Disease\Congenital disease\Congenital connective tissue disorder\Neonatal Marfan syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Neonatal Marfan syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644679014	Neonatal Marfan syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3644680012	Neonatal Marfan syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3644681011	A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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