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Human Phenotype Ontology
| Preferred Name | Spinal dysraphism | |
| Synonyms |
Incomplete closure of the vertebral arch |
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| Definitions |
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta. |
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| ID |
http://purl.obolibrary.org/obo/HP_0010301 |
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| comment |
Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta.
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| creation_date |
2009-07-12T12:58:04Z
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| database_cross_reference |
UMLS:C0027794 SNOMEDCT_US:253098009
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| definition |
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
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| has_exact_synonym |
Incomplete closure of the vertebral arch
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| has_obo_namespace |
human_phenotype
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| id |
HP:0010301
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| label |
Spinal dysraphism
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| notation |
HP:0010301
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| prefLabel |
Spinal dysraphism
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