81042008: Congenital anomaly of spinal cord (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\Congenital anomaly of spinal cord
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of spinal cord	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Congenital anomaly of spinal cord	Is a	Spinal cord disorder (disorder)	true	Inferred relationship	Some
Congenital anomaly of spinal cord	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Congenital anomaly of spinal cord	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of spinal cord	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of spinal cord	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of spinal cord	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Congenital anomaly of spinal cord	Finding site	Spinal cord structure	false	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Is a	Congenital anomaly of vertebral region of back	false	Inferred relationship	Some
Congenital anomaly of spinal cord	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of spinal cord	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of spinal cord	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Congenital anomaly of spinal cord	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hydromyelia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Defective development of cauda equina	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Arnold-Chiari syndrome	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Myelatelia	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida of dorsal region (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Hydromyelocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Congenital anomaly of spinal meninges	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Diastematomyeli	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida with hydrocephalus	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spinal cord dysplasia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Hemimyelia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida of lumbar region	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Amyelia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
[X]Other specified congenital malformations of spinal cord	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Congenital syringomyelia (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida of cervical region	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida of lumbar region	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Hydromeningomyelocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Abnormality of canalization and retrogressive differentiation (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
mangelfuld udvikling af cauda equina	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Diplomyelia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Myeloschisis (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida aperta	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spinal cord hypoplasia	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Syringomyelobulbi	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spinalt hydromeningocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Split spinal cord malformation (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida aperta of thoracic spine (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida aperta of cervical spine (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Spina bifida aperta of lumbar spine (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Intramedullary glomus arteriovenous malformation of spinal cord (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Myelocele with hydrocephalus	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Cervical myelocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Lumbar myelocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Myelodysplasia of spinal cord	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Encephalomyelocele	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Thoracic myelocele	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
Lipoma due to neurospinal dysraphism	Is a	False	Congenital anomaly of spinal cord	Inferred relationship	Some
A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27.	Is a	True	Congenital anomaly of spinal cord	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	Congenital anomaly of spinal cord	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	Congenital anomaly of spinal cord	Inferred relationship	Some
A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura.	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some
Aplasia of spinal cord white matter column (disorder)	Is a	True	Congenital anomaly of spinal cord	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
134444018	Congenital anomaly of spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
134449011	Deformity of spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
134450011	Congenital disease of spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
134451010	Congenital lesion of spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
822270016	Congenital anomaly of spinal cord (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234550018	Congenital spinal cord anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3001331000005119	kongenit rygmarvsanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)