722493007: dysgénésie caudale familiale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\Finding of spinal region\Finding of lumbar spine\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (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\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (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\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (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\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (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\Familial caudal dysgenesis (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of lumbar spine\Disorder of lumbar spine\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (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\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Familial caudal dysgenesis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Familial caudal dysgenesis (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Familial caudal dysgenesis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Familial caudal dysgenesis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Familial caudal dysgenesis (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Familial caudal dysgenesis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Familial caudal dysgenesis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (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)\Familial caudal dysgenesis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Familial caudal dysgenesis (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
3332308017	Familial caudal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332309013	Familial caudal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332486017	Rudd Klimek syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758821000241113	dysgénésie caudale familiale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957641000172117	dysgénésie caudale familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
977521000172113	syndrome de Rudd-Klimek	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3332487014	A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity.	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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