774150004: syndrome d'agénésie sacrée-ossification anormale des corps vertébraux-persistance de la notochorde (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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 anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \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)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\anomalie du tube neural\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3728147016	Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728148014	Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
772291000241111	syndrome d'agénésie sacrée-ossification anormale des corps vertébraux-persistance de la notochorde (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
869861000172110	syndrome d'agénésie sacrée-ossification anormale des corps vertébraux-persistance de la notochorde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3728149018	A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27.	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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