74877002: Congenital anomaly of spine (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of spine	Is a	Disorder of spinal column	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital anomaly of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of spine	Finding site	Bone structure of spine	false	Inferred relationship	Some	1
Congenital anomaly of spine	Is a	Sygdom i rygsøjlen	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Disorder of trunk (disorder)	false	Inferred relationship	Some
Congenital anomaly of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of spine	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital anomaly of spine	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Vertebral column finding	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Finding of bone of spine	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital anomaly of spine	Is a	Congenital anomaly of back	false	Inferred relationship	Some
Congenital anomaly of spine	Finding site	Spinal struktur	false	Inferred relationship	Some	1
Congenital anomaly of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of spine	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital anomaly of spine	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
Congenital anomaly of spine	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of spine	Finding site	Structure of vertebral column (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of spine	Is a	Congenital anomaly of vertebral region of back	true	Inferred relationship	Some
Congenital anomaly of spine	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of spine	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital anomaly of spine	Finding site	Structure of vertebral column (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of spine	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of spine	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of spine	Finding site	Structure of vertebral column and/or spinal cord (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic developmental defect during embryogenesis syndrome with characteristics of postaxial polydactyly and other abnormalities of the hands and feet (for example brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Incomplete ossification of vertebra (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Osteomesopyknose	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Brakyraki	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital instability of spine	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital coronal cleft of vertebra (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Pygopagus	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital sagittal cleft of vertebra (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Multiple congenital defects of vertebral segmentation	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Melorheostosis of spine (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Autosomal recessive Robinow syndrome	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital spondylolysis (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some

Start Page 2 of 2

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
124356012	Congenital anomaly of spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124360010	Congenital anomaly of vertebral column	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124361014	Congenital spine malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502840010	Congenital malformation of spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
815424018	Congenital anomaly of spine (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2009021000005111	kongenit rygsøjleanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)