01
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Spina Bifida
- Standard Disease Name
- spina bifida
- MeSH Tree
- No data
- ICD-10
- Q05|Q05.9
Identifiers
- DO ID
- No data
- MeSH ID
- D016135
- OMIM ID
- 182940|MTHU007928|MTHU015110
- UMLS ID
- C0080178
- HPO ID
- No data
Description and Extensions
- Description
- PSY2004:Birth defect involving inadequate closure of the bony casement of the spinal cord, through which the spinal membranes, with or without spinal cord tissue, may protrude.|NCI2016_CDISC_1602D:A family of defects in the closure of the spinal column. May be covered with skin (spina bifida occulta) or not covered with skin (spinabifida aperta); may involve protrusion of spinal cord and/or meninges. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.|MSH2017_2016_08_12:Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)|MEDLINEPLUS_20151021:<p>Spina bifida is a <a href='https://www.nlm.nih.gov/medlineplus/neuraltubedefects.html'>neural tube defect</a> - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby is born.</p> <p>The symptoms of spina bifida vary from person to person. Most people with spina bifida are of normal intelligence. Some people need assistive devices such as braces, crutches, or wheelchairs. They may have learning difficulties, urinary and bowel problems, or <a href='https://www.nlm.nih.gov/medlineplus/hydrocephalus.html'>hydrocephalus</a>, a buildup of fluid in the brain.</p> <p>The exact cause of spina bifida is unknown. It seems to run in families. Taking <a href='https://www.nlm.nih.gov/medlineplus/folicacid.html'>folic acid</a> can reduce the risk of having a baby with spina bifida. It's in most multivitamins. Women who could become pregnant should take it daily.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. [HPO:probinson]|CSP2006:developmental anomaly characterized by defective closure of the bony encasement of the spinal cord, through which the cord and meninges may protrude.
