8301004: Caudal regression syndrome (disorder)

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

\Finding of back (finding)\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Caudal regression 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\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of lumbar spine\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Finding of lumbar spine\Disorder of lumbar spine\Caudal regression syndrome
\Finding of back (finding)\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Caudal regression syndrome
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of lumbar spine\Caudal regression syndrome
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of sacrum\Caudal regression syndrome
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression 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\Caudal regression 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\Caudal regression 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\Caudal regression syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Caudal regression 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\Caudal regression 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\Caudal regression 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\Caudal regression 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\Caudal regression 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\Caudal regression syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of lumbar spine\Disorder of lumbar spine\Caudal regression 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\Caudal regression 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\Caudal regression 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\Caudal regression syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Caudal regression syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Caudal regression syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression 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\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression 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\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression 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\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression 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\Caudal regression 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\Caudal regression syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Caudal regression syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of lumbar spine\Caudal regression syndrome
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of sacrum\Caudal regression syndrome
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Caudal regression 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\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Abnormality of canalization and retrogressive differentiation (disorder)\Caudal regression syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Caudal regression syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Caudal regression syndrome	Is a	Malformation sequence	true	Inferred relationship	Some
Caudal regression syndrome	Is a	Abnormality of canalization and retrogressive differentiation (disorder)	true	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of back including back of neck.	false	Inferred relationship	Some
Caudal regression syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Caudal regression syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Caudal regression syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Caudal regression syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	1
Caudal regression syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of trunk (disorder)	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Sacral spine finding	false	Inferred relationship	Some
Caudal regression syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Caudal regression syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Caudal regression syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Caudal regression syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Caudal regression syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	1
Caudal regression syndrome	Is a	Disorder of abdominal segment of trunk	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of pelvic region of trunk (disorder)	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of sacrum	true	Inferred relationship	Some
Caudal regression syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Caudal regression syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Caudal regression syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	3
Caudal regression syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	2
Caudal regression syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Caudal regression syndrome	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Congenital skeletal dysplasia (disorder)	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Congenital anomaly of lower trunk	false	Inferred relationship	Some
Caudal regression syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Caudal regression syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Caudal regression syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Caudal regression syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Caudal regression syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Caudal regression syndrome	Finding site	Lumbosacral region of spine structure	false	Inferred relationship	Some	1
Caudal regression syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
Caudal regression syndrome	Is a	Disorder of lumbar spine	true	Inferred relationship	Some
Caudal regression syndrome	Finding site	This volume includes the lumbar segment of the spinal column, its spaces and contents, notably the spinal canal, spinal meninges and spinal cord within this segment. It also includes the muscles associated with the lumbar spine within (and including) the anterior and posterior thoracolumbar fascia. This region also includes the spinal ventral (anterior) and dorsal (posterior) roots, the dorsal root (spinal) ganglions and the spinal nerve trunks of the lumbar segment.	true	Inferred relationship	Some	1
Caudal regression syndrome	Is a	Congenital anomaly of the pelvis	true	Inferred relationship	Some
Caudal regression syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Caudal regression syndrome	Finding site	Structure of sacral vertebral column region (body structure)	true	Inferred relationship	Some	2
Caudal regression syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Caudal regression syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Caudal regression syndrome	Is a	Congenital anomaly of body wall	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sacral dysgenesis	Is a	False	Caudal regression syndrome	Inferred relationship	Some
Lumbosacral agenesis (disorder)	Is a	False	Caudal regression syndrome	Inferred relationship	Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.	Is a	False	Caudal regression syndrome	Inferred relationship	Some
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Is a	False	Caudal regression syndrome	Inferred relationship	Some
Sacral agenesis	Is a	False	Caudal regression syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
14686011	Caudal dysplasia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14687019	Caudal regression syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555077015	Caudal regression syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4416351000241119	syndrome de dysplasie caudale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434401001000115	Kaudales Regressionssyndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module