722493007: Familial caudal dysgenesis (disorder)

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

\Finding of back (finding)\Finding of sacral region (finding)\Sacral spine finding\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of lumbar spine\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)

\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of lumbar spine\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial caudal dysgenesis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial caudal dysgenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Familial caudal dysgenesis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\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\Familial caudal dysgenesis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of lumbar spine\Familial caudal dysgenesis (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of sacrum\Familial caudal dysgenesis (disorder)
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Familial caudal dysgenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Familial caudal dysgenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\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
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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402970015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402971016 A rare, genetic, developmental defect during embryogenesis disorder characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial caudal dysgenesis (disorder)	Is a	Caudal regression syndrome	false	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Familial caudal dysgenesis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Familial caudal dysgenesis (disorder)	Finding site	Sacral spine structure	false	Inferred relationship	Some	3
Familial caudal dysgenesis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Finding site	Lumbosacral region of spine structure	false	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Finding site	Structure of lumbar vertebral column region (body structure)	true	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Is a	Congenital anomaly of vertebral region of back	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Congenital anomaly of the pelvis	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	Disorder of lumbar spine	true	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Finding site	Structure of sacral vertebral column region (body structure)	true	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Is a	Congenital anomaly of body wall	false	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Is a	Disorder of sacrum	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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
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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402970015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402971016	A rare, genetic, developmental defect during embryogenesis disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core