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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Familial caudal dysgenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Familial caudal dysgenesis
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Familial caudal dysgenesis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3332308017 Familial caudal dysgenesis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3332309013 Familial caudal dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module

3332486017 Rudd Klimek syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

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
3332308017	Familial caudal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3332309013	Familial caudal dysgenesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332486017	Rudd Klimek syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module