763839005: syndrome de Marfan néonatal (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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\syndrome de Marfan néonatal
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \constatation à propos du nouveau-né\Neonatal disorder\Neonatal cardiovascular disorder\syndrome de Marfan néonatal
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\...
• \Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\syndrome de Marfan néonatal
• \Neonatal cardiovascular disorder\syndrome de Marfan néonatal
• \Cardiovascular system hereditary disorder\syndrome de Marfan néonatal
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\syndrome de Marfan néonatal
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Marfan néonatal
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Marfan's syndrome\syndrome de Marfan néonatal
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marfan's syndrome\syndrome de Marfan néonatal
• \Disease\Disorder of fetus or newborn (disorder)\Neonatal disorder\Neonatal cardiovascular disorder\syndrome de Marfan néonatal
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\syndrome de Marfan néonatal
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\syndrome de Marfan néonatal
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Neonatal cardiovascular disorder\syndrome de Marfan néonatal
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\syndrome de Marfan néonatal
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Marfan's syndrome\syndrome de Marfan néonatal
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\syndrome de Marfan néonatal
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\syndrome de Marfan néonatal
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\syndrome de Marfan néonatal
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\syndrome de Marfan néonatal
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome de Marfan néonatal
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de Marfan néonatal
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\syndrome de Marfan néonatal

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1003471000172115	syndrome de Marfan néonatal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3644679014	Neonatal Marfan syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3644680012	Neonatal Marfan syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766641000241114	syndrome de Marfan néonatal (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
961011000172112	MFS néonatal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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