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253098009: Neural tube defect (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
376979016 Neural tube defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
376980018 NTD - Neural tube defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
643816012 Neural tube defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
940021000195114 difetto del tubo neurale it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
207161000172118 anomalie du tube neural fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
418831000274112 Neuralrohrdefekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

107 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neural tube defect Is a Congenital anomaly of nervous system true Inferred relationship Some
Neural tube defect Occurrence Congenital false Inferred relationship Some 3
Neural tube defect Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Neural tube defect Finding site Neural tube structure false Inferred relationship Some 1
Neural tube defect Associated morphology anomalie congénitale false Inferred relationship Some 1
Neural tube defect Associated morphology anomalie congénitale false Inferred relationship Some 2
Neural tube defect Associated morphology anomalie congénitale false Inferred relationship Some 1
Neural tube defect Associated morphology anomalie congénitale false Inferred relationship Some 2
Neural tube defect Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Neural tube defect Associated morphology anomalie congénitale false Inferred relationship Some 1
Neural tube defect Finding site Neural tube structure false Inferred relationship Some 3
Neural tube defect Is a Disorder of embryonic structure (disorder) false Inferred relationship Some
Neural tube defect Occurrence Congenital false Inferred relationship Some 2
Neural tube defect Associated morphology anomalie du développement false Inferred relationship Some 2
Neural tube defect Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Neural tube defect Occurrence Congenital true Inferred relationship Some 1
Neural tube defect Finding site Neural tube structure true Inferred relationship Some 1
Neural tube defect Associated morphology anomalie du développement false Inferred relationship Some 3
Neural tube defect Is a Congenital ectodermal defect true Inferred relationship Some
Neural tube defect Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Neural tube defect Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hydromyelia Is a True Neural tube defect Inferred relationship Some
Myelodysplasia of spinal cord Is a True Neural tube defect Inferred relationship Some
Spinal hamartoma Is a True Neural tube defect Inferred relationship Some
Neuroenteric cyst and associated malformation Is a False Neural tube defect Inferred relationship Some
Diplomyelia Is a False Neural tube defect Inferred relationship Some
Myeloschisis Is a True Neural tube defect Inferred relationship Some
Craniorachischisis Is a True Neural tube defect Inferred relationship Some
Encephalocele Is a False Neural tube defect Inferred relationship Some
Spina bifida Is a True Neural tube defect Inferred relationship Some
Hemimyelia Is a True Neural tube defect Inferred relationship Some
Amyelia Is a False Neural tube defect Inferred relationship Some
Exencephaly Is a True Neural tube defect Inferred relationship Some
Anencephalus Is a False Neural tube defect Inferred relationship Some
Acrania Is a False Neural tube defect Inferred relationship Some
Faun tail syndrome Is a False Neural tube defect Inferred relationship Some
hydromyéloméningocèle Is a False Neural tube defect Inferred relationship Some
Amniocentesis for possible neural tube defect (procedure) Has focus True Neural tube defect Inferred relationship Some 4
Serum neural tube defect screening test (procedure) Has focus True Neural tube defect Inferred relationship Some 3
Split spinal cord malformation (disorder) Is a False Neural tube defect Inferred relationship Some
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. Is a True Neural tube defect Inferred relationship Some
Leptomyelolipoma (disorder) Is a True Neural tube defect Inferred relationship Some
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Is a True Neural tube defect Inferred relationship Some
Neurenteric cyst (disorder) Is a True Neural tube defect Inferred relationship Some
Lipomyelomeningocele Is a True Neural tube defect 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 Neural tube defect 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 Neural tube defect Inferred relationship Some
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Is a True Neural tube defect 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 Neural tube defect 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 Neural tube defect 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 Neural tube defect Inferred relationship Some

This concept is not in any reference sets

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