Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Spinal dysraphism

Synonyms

Incomplete closure of the vertebral arch

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 includ spina bifida occulta.

ID

http://purl.obolibrary.org/obo/HP_0010301

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 includ spina bifida occulta.

creation date

2009-07-12T12:58:04Z

creator

https://orcid.org/0000-0002-0736-9199

database_cross_reference

MSH:D009436

UMLS:C0027794

SNOMEDCT_US:253098009

definition

A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.

has exact synonym

Incomplete closure of the vertebral arch

id

HP:0010301

label

Spinal dysraphism

notation

HP:0010301

prefLabel

Spinal dysraphism

subClassOf

http://purl.obolibrary.org/obo/MP_0003720

http://purl.obolibrary.org/obo/HP_0045005

http://purl.obolibrary.org/obo/MP_0000955

http://purl.obolibrary.org/obo/HP_0002143

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