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60271003: Neural tube structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
100130010 Neural tube en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
498688014 Neural tube structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
799205019 Neural tube structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1814851000005111 struktur af neuralrør da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neural tube structure Is a Ectoderm structure true Inferred relationship Some
Neural tube structure Is a Embryonic nervous system structure true Inferred relationship Some
Neural tube structure del af Entire fetus false Additional relationship Some
Neural tube structure del af Entire ectoderm false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniorachischisis Finding site False Neural tube structure Inferred relationship Some 3
Iniencephaly (disorder) Finding site False Neural tube structure Inferred relationship Some 1
Spina bifida of sacral region (disorder) Finding site False Neural tube structure Inferred relationship Some 2
Diastematomyeli Finding site False Neural tube structure Inferred relationship Some 2
Split spinal cord malformation (disorder) Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida of sacral region (disorder) Finding site False Neural tube structure Inferred relationship Some 5
Diastematomyeli Finding site False Neural tube structure Inferred relationship Some 4
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling Finding site False Neural tube structure Inferred relationship Some 9
Myelocele with hydrocephalus Finding site False Neural tube structure Inferred relationship Some 9
Occult spinal dysraphism sequence Finding site True Neural tube structure Inferred relationship Some 3
Neurenterisk cyste Finding site False Neural tube structure Inferred relationship Some 1
Hemimyelia Finding site True Neural tube structure Inferred relationship Some 2
Craniorachischisis Finding site True Neural tube structure Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 2
Sacral spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida aperta of thoracic spine (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Spina bifida Finding site True Neural tube structure Inferred relationship Some 2
Faun tail syndrome Finding site True Neural tube structure Inferred relationship Some 1
Neurenterisk cyste og associeret malformation Finding site False Neural tube structure Inferred relationship Some 1
Cervical spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Lumbar spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Rachischisis with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 3
Myelodysplasia of spinal cord Finding site True Neural tube structure Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Finding site False Neural tube structure Inferred relationship Some 1
Cervical spina bifida without hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 2
Neural tube defect Finding site True Neural tube structure Inferred relationship Some 1
Spina bifida with hydrocephalus of late onset Finding site True Neural tube structure Inferred relationship Some 2
åben defekt i rygsøjlen med hydrocephalus Finding site False Neural tube structure Inferred relationship Some 3
Iniencephaly - closed Finding site True Neural tube structure Inferred relationship Some 1
Cervical spina bifida with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 3
Iniencephaly - open Finding site True Neural tube structure Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida aperta of lumbar spine (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Diastematomyeli Finding site False Neural tube structure Inferred relationship Some 3
Hydromyelia Finding site True Neural tube structure Inferred relationship Some 3
Exencephaly Finding site True Neural tube structure Inferred relationship Some 3
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Finding site False Neural tube structure Inferred relationship Some 8
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Finding site False Neural tube structure Inferred relationship Some 7
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. Finding site True Neural tube structure Inferred relationship Some 4
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. Finding site True Neural tube structure Inferred relationship Some 3
Leptomyelolipoma (disorder) Finding site True Neural tube structure Inferred relationship Some 1
Spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 1
Spina bifida without hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida with stenosis of aqueduct of Sylvius Finding site True Neural tube structure Inferred relationship Some 3
Lumbar spina bifida with hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 4
Spina bifida aperta of cervical spine (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Spina bifida of sacral region (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Lumbar spina bifida without hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 3
Sacral spina bifida without hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 3
Spina bifida of cervical region Finding site True Neural tube structure Inferred relationship Some 3
Hemimyelocele Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida of lumbar region Finding site True Neural tube structure Inferred relationship Some 3
Spina bifida without hydrocephalus Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 3
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Finding site True Neural tube structure Inferred relationship Some 4
Spina bifida aperta Finding site True Neural tube structure Inferred relationship Some 3
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. Finding site True Neural tube structure Inferred relationship Some 2
åben defekt i rygsøjlen Finding site False Neural tube structure Inferred relationship Some 2
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Finding site True Neural tube structure Inferred relationship Some 2
Spina bifida of dorsal region (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Lumbar myelocystocele Finding site True Neural tube structure Inferred relationship Some 3
Thoracolumbar spina bifida without hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Thoracolumbar spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 3
Hydromyeli Finding site False Neural tube structure Inferred relationship Some 1
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Finding site True Neural tube structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 4
Spina bifida with hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Finding site True Neural tube structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - open Finding site True Neural tube structure Inferred relationship Some 1
Cervical myelocystocele Finding site True Neural tube structure Inferred relationship Some 3
Thoracic myelocystocele Finding site True Neural tube structure Inferred relationship Some 3
Myelocele with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 1
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. Finding site True Neural tube structure Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida Finding site True Neural tube structure Inferred relationship Some 2
Myelomeningocele that occurs in the region L1 to L3. Finding site True Neural tube structure Inferred relationship Some 3
Myelomeningocele that occurs in the region L4 to L5. Finding site True Neural tube structure Inferred relationship Some 3
Myelomeningocele co-occurrent with hydrocephalus (disorder) Finding site True Neural tube structure Inferred relationship Some 3
Hydromeningomyelocele Finding site False Neural tube structure Inferred relationship Some 5
Lumbar meningomyelocele Finding site True Neural tube structure Inferred relationship Some 4
Myelomeningocele without hydrocephalus (disorder) Finding site True Neural tube structure Inferred relationship Some 2
Lipomyelomeningocele Finding site False Neural tube structure Inferred relationship Some 3
Meningomyelocele (disorder) Finding site True Neural tube structure Inferred relationship Some 5
Thoracic meningomyelocele Finding site True Neural tube structure Inferred relationship Some 5
Cervical meningomyelocele Finding site True Neural tube structure Inferred relationship Some 4
Fetal spina bifida (disorder) Finding site True Neural tube structure Inferred relationship Some 2
Meningomyelocele of lumbosacral spine (disorder) Finding site True Neural tube structure Inferred relationship Some 2
Neurenteric cyst (disorder) Finding site True Neural tube structure Inferred relationship Some 1
Structure of fetal neural tube Is a True Neural tube structure Inferred relationship Some
Cervicothoracic spina bifida aperta with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 6
Cervicothoracic spina bifida aperta Finding site True Neural tube structure Inferred relationship Some 5
Lumbosacral spina bifida aperta Finding site True Neural tube structure Inferred relationship Some 6
Lumbosacral spina bifida aperta with hydrocephalus Finding site True Neural tube structure Inferred relationship Some 6
Thoracolumbosacral spina bifida aperta (disorder) Finding site True Neural tube structure Inferred relationship Some 8
Spina bifida aperta of upper thoracic spine (disorder) Finding site True Neural tube structure Inferred relationship Some 4

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