726083008: Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Meningocele\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningocele\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningocele\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Congenital meningocele\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3448066015	Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448067012	Kousseff syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448070011	Congenital sacral meningocele with conotruncal heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448071010	Congenital sacral meningocoele with conotruncal heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448068019	Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448069010	Syndrome that is characterised by the association of conotruncal heart defects, myelomeningocoele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder.	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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