249491000119100: Structural developmental anomalies of neurenteric canal (disorder)

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

\Disorder of embryonic structure (disorder)\Structural developmental anomalies of neurenteric canal (disorder)

\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Structural developmental anomalies of neurenteric canal (disorder)

\Developmental disorder\Congenital malformation\Structural developmental anomalies of neurenteric canal (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3004433015 Spinal dysraphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3008898011 Structural developmental anomalies of neurenteric canal (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3009020016 Structural developmental anomalies of neurenteric canal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7842381000241118 dysraphie spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7842391000241116 dysraphisme rachidien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7842401000241118 anomalies développementales structurelles du canal neurentérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Structural developmental anomalies of neurenteric canal (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Structural developmental anomalies of neurenteric canal (disorder)	Is a	Disorder of embryonic structure (disorder)	true	Inferred relationship	Some
Structural developmental anomalies of neurenteric canal (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Structural developmental anomalies of neurenteric canal (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Structural developmental anomalies of neurenteric canal (disorder)	Finding site	Neurenteric canal	true	Inferred relationship	Some	1
Structural developmental anomalies of neurenteric canal (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Structural developmental anomalies of neurenteric canal (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
Spina bifida aperta	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
Freeing of spinal tether	Has focus	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some	2
Repair of spinal dysraphism	Has focus	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some	1
Lipoma due to neurospinal dysraphism	Due to	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some	2
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, which thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (anorectal malformation) or syndrome.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some
A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.	Is a	True	Structural developmental anomalies of neurenteric canal (disorder)	Inferred relationship	Some

This concept is not in any reference sets