1367654004: Congenital segmental spinal dysgenesis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Spinal dysgenesis (disorder)\Congenital segmental spinal dysgenesis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5464029011	Congenital segmental spinal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5464030018	Congenital segmental spinal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5464031019	Segmental spinal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5464032014	SSD - segmental spinal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5464033016	A rare complex congenital spinal anomaly characterised by localised agenesis/dysgenesis of the spine (usually lumbar or thoracolumbar spine), kypho-scoliotic deformity (including severe congenital kyphosis or kyphoscoliosis) and focal abnormalities of the underlying spinal cord and nerve roots. Typically, there is segmental absence or malformation of the spinal cord characterised by normal upper spinal cord and significantly abnormal (thinned or even barely perceptible) affected cord segment without nerve roots, and a thickened, bulky distal cord. Closed spinal dysraphism may be present. Majority of the affected individuals present with neurogenic bladder (sometimes with vesicoureteral reflux), severe motor impairment (spastic paraparesis/paraplegia), reduced or absent tendon reflexes and severely hypotrophic and deformed lower limbs. In some patients, clonus, hypotonia, clubfoot, horseshoe kidney and bilateral hip dislocation were reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5464034010	A rare complex congenital spinal anomaly characterized by localized agenesis/dysgenesis of the spine (usually lumbar or thoracolumbar spine), kypho-scoliotic deformity (including severe congenital kyphosis or kyphoscoliosis) and focal abnormalities of the underlying spinal cord and nerve roots. Typically, there is segmental absence or malformation of the spinal cord characterized by normal upper spinal cord and significantly abnormal (thinned or even barely perceptible) affected cord segment without nerve roots, and a thickened, bulky distal cord. Closed spinal dysraphism may be present. Majority of the affected individuals present with neurogenic bladder (sometimes with vesicoureteral reflux), severe motor impairment (spastic paraparesis/paraplegia), reduced or absent tendon reflexes and severely hypotrophic and deformed lower limbs. In some patients, clonus, hypotonia, clubfoot, horseshoe kidney and bilateral hip dislocation were reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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