774150004: Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (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
\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\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\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\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\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\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\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\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\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 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)\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 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 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)\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\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\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\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\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\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Neural tube defect\Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
\Disease\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\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\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\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 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\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 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

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

4216341000052118 syndrom med sakral agenesi, onormal benbildning i kotkroppar och persisterande notokordkanal sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	ryggradens lumbosakrala region, struktur	false	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Sacral agenesis	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	Neural tube structure	true	Inferred relationship	Some	1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Neural tube defect	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	Entire sacral vertebral column	false	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	Structure of sacral vertebral column region (body structure)	true	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	Congenital anomaly of spinal cord (disorder)	true	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Finding site	Entire sacral vertebral column region (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
4216341000052118	syndrom med sakral agenesi, onormal benbildning i kotkroppar och persisterande notokordkanal	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)