774150004: syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\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
• \Finding of back (finding)\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 (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Finding of spinal region\Sacral spine finding\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Disorder of back\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
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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 (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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 (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\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 (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Genetic disease\Hereditary disease\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\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of back\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\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of sacrum (disorder)\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Disorder of back\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\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Sacral agenesis\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord (disorder)\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\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
7050851000146118	syndroom van sacrale agenesie, abnormale botontwikkeling van wervellichamen en persisterende chorda dorsalis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7905891000146115	syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7905901000146119	syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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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