Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Spinal dysraphism

Synonyms

Incomplete closure of the vertebral arch

Definitions

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

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

SNOMEDCT_US:253098009

UMLS:C0027794

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

has_obo_namespace

human_phenotype

id

HP:0010301

label

Spinal dysraphism

notation

HP:0010301

prefLabel

Spinal dysraphism

treeView

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

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

subClassOf

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

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

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http://purl.bioontology.org/ontology/OMIM/MTHU059515 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D016135 Medical Subject Headings / 医学主题词表 LOOM