722493007: Familial caudal dysgenesis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Finding of sacral region\Sacral spine finding\Disorder of sacrum\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of lumbar spine\Disorder of lumbar spine\Familial caudal dysgenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial caudal dysgenesis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial caudal dysgenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Familial caudal dysgenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of lumbar spine\Familial caudal dysgenesis
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\Disease\Disorder of back\Disorder of spinal region\Disorder of lumbar spine\Familial caudal dysgenesis
\Disease\Disorder of back\Disorder of spinal region\Disorder of sacrum\Familial caudal dysgenesis
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\Disease\Developmental disorder\Developmental hereditary disorder\Familial caudal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Familial caudal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3332309013 Familial caudal dysgenesis en Synonym Active Case insensitive SNOMED CT core

3332486017 Rudd Klimek syndrome en Synonym Active Case sensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332308017	Familial caudal dysgenesis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332309013	Familial caudal dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core
3332486017	Rudd Klimek syndrome	en	Synonym	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core