FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

699943005: Congenital anomaly of vertebral region of back (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2986564013 Congenital anomaly of vertebral region of back en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2986882015 Congenital anomaly of vertebral region of back (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5965471000241116 anomalie congénitale dans la région vertébrale du dos fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5965481000241119 anomalie congénitale dans la région dorsale vertébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

355 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of vertebral region of back Is a Disorder of spinal region (disorder) true Inferred relationship Some
Congenital anomaly of vertebral region of back Is a Congenital anomaly of back true Inferred relationship Some
Congenital anomaly of vertebral region of back Occurrence Congenital false Inferred relationship Some
Congenital anomaly of vertebral region of back Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of vertebral region of back Finding site Structure of vertebral region of back false Inferred relationship Some 2
Congenital anomaly of vertebral region of back Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of vertebral region of back Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital anomaly of vertebral region of back Finding site Structure of vertebral region of back false Inferred relationship Some 1
Congenital anomaly of vertebral region of back Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of vertebral region of back Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of vertebral region of back Finding site This volume includes the spinal column, its spaces and contents, notably the spinal canal, spinal meninges and spinal cord. It also includes the muscles associated with the spine within (and including) the anterior and posterior thoracolumbar fascia and its equivalent nuchal fascia in the neck. This region also includes the spinal ventral (anterior) and dorsal (posterior) roots, the dorsal root (spinal) ganglions and the spinal nerve trunks. true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital kyphosis Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital anomaly of spine Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital anomaly of spinal cord Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Spinal arteriovenous malformation Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Cobb's syndrome Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital lordosis/scoliosis Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital postural lordosis Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Sacral agenesis Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital absence of spine Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Hypoplasia of spine Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital deformity of spine Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Cobb's syndrome Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
MEDNIK-Syndrom Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Spinal arteriovenous malformation Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
dysgénésie de la queue de cheval Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital stenosis of spinal canal (disorder) Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital anomaly of cauda equina Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Is a False Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital postural scoliosis Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Sacral dysgenesis Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital anomaly of blood vessel of spine (disorder) Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Pygopagus Is a True Congenital anomaly of vertebral region of back Inferred relationship Some
Congenital lordosis deformity of spine (disorder) Is a True Congenital anomaly of vertebral region of back Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start