DiseaseID 4593

脊髓膨出

disease

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Disease: 1Symptom: 12Target: 12Links: 24

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Record Fields

Scalar fields from the final disease record.

Disease Id: 4593
Core Entity Id: 60966
Source Entity Count: 1
Preferred Name: Myelocele
Name Cn: 脊髓膨出
Name Pinyin: Ji Sui Peng Chu
Name En: Myelocele
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Acquired Abnormality
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Do Class: disease of anatomical entity; physical disorder
Hpo Class: Abnormality of the nervous system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Hpo Class Name: Abnormality of the nervous system
Do Class Name: disease of anatomical entity; physical disorder
Disease Definition: MSH2017_2016_08_12:A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Myelocele

Role

preferred

Name

Meningomyelocele

Role

preferred

Name

Neural Tube Defects, Susceptibility To

Role

preferred

Name

Spina Bifida

Role

preferred

Name

Spina Bifida Cystica

Role

preferred

Name

Spinal Meningocele

Role

preferred

Name

Acquired Meningomyelocele

Role

preferred

Name

Rachischisis

Role

preferred

Name

Spina Bifida, Open

Role

preferred

Name

Status Dysraphicus

Role

preferred

Name

Incomplete Closure of The Vertebral Arch

Role

alias

Name

Myelomeningocele

Role

alias

Name

NTD

Role

alias

Name

Spina Bifida, Unspecified

Role

alias

Name

Spinal Dysraphism

Role

alias

Name

Split Spine

Role

alias

Name

Tethered Spinal Cord Syndrome

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0002414HP:0002475HP:0010301

Herb

HBDIS000644HBDIS001921HBDIS002801HBDIS002831HBDIS003224HBDIS003424HBDIS006015HBDIS011233HBDIS012377HBDIS022882

Me Sh

D008591D016135D016137

Omim

182940

Umls

C0009730C0025312C0037917C0080178C3891448

Icd10

Q05Q05.9

Sym Map

SMDE03846SMDE10865SMDE13330SMDE13331SMDE13344

Do Class

DOID:0080015DOID:7

Dis Ge Net

C0009730C0025312C0037917C0038219C0080178C0086664C0266508C0751316C0917813C3891448

Umls Sty

T019T020T033

Hpo Class

HP:0000707

Me Sh Class

C05C10C16C23

Tcmbank Disease

126581470717476186181878219429199022546952787539903

Itcmdb Generated

ITX-DISEASE-3CEF3288F796ITX-DISEASE-44B7E1050700ITX-DISEASE-5F8B7749A054ITX-DISEASE-8789799C4A7AITX-DISEASE-FF3B16E60FDB

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v2

Suppress

Do Class Name

disease of anatomical entity; physical disorder

Disease Type

diseasephenotype

Hpo Class Name

Abnormality of the nervous system

Do Disease Class

disease of anatomical entity; physical disorder

Hpo Disease Class

Abnormality of the nervous system

Umls Disease Type

Acquired AbnormalityCongenital AbnormalityFinding

Disease Definition

MSH2017_2016_08_12:A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)NCI2016_02D:A congenital abnormality in which the meninges protrude through a defect in the spinal column.NCI2016_NICHD_1602D:Incomplete closure of the spinal column during central nervous system development with protrusion of a hernial cyst containing meninges, spinal cord, or both.|NCI2016_02D:A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.|MSH2017_2016_08_12:Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)|HPO2016_07_04:Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. [HPO:probinson]|HPO2016_07_04:Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. [] {name="PMID:9514174", name="UToronto:chum"}|CSP2006:hernial protrusion of the spinal cord and its meninges through a defect in the vertebral canal.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: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. 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. 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. NIH: National Institute of Neurological Disorders and Stroke|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.

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms

Dis Ge Net Disease Type

diseasephenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases

Umls Semantic Type Name

Acquired AbnormalityCongenital AbnormalityFinding