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\Fetal and/or neonatal disorder\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	Disorder of spine	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	anomalie congénitale	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 structure	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 structure	false	Inferred relationship	Some	1
Congenital anomaly of spine	Associated morphology	anomalie congénitale	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	anomalie congénitale	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	anomalie du développement	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
Congenital deformity of spine	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Defect of vertebral segmentation	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Hypoplasia of spine	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital absence of spine	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital sacrococcygeal anomaly	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital spondylolisthesis	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital absence of vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital deformity of sacroiliac joint (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Spondyloschisis	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Straight back syndrome	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Spina bifida	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital hemivertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Platyspondylia	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital lumbosacral stenosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Cervical malformation - malarticulation	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Atlanto-occipital malformation	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Supernumerary vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Kyphosis deformity of spine	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Persistent human tail	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital absence of centrum of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
coudure congénitale de la queue	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of caudal vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of cervical vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of lumbar vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of sacral vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of thoracic vertebra	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital curled tail	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital double-tipped tail	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital thread-like tail	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital fleshy tail tab	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital malposition of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital malposition of lumbar vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Dumbbell ossification of centrum of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Hemicentric cervical centrum	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Incomplete ossification of arch of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Incomplete ossification of centrum of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Lack of ossification of arch of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Lack of ossification of centrum of cervical vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital lordosis/scoliosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Anomaly of spine, unspecified	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Anomalies of spine NOS	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
[X]Other congenital malformations of spine, not associated with scoliosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital postural scoliosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital spinal meningocele	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Acephalorhachia	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital spine deformity, unspecified	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital spine deformity NOS	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital deformity of spine	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Meningomyelocele	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital scoliosis due to bony malformation	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital kyphoscoliosis (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital anomaly of spinal cord	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
incurvation posturale congénitale de la colonne vertébrale	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Cobb's syndrome	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Spinal arteriovenous malformation	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Spinal dysgenesis (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Spinal meningocele	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Cervical spinal hydromeningocele	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital postural lordosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital spinal meningocele	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital hemivertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital absence of vertebra	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital sacrococcygeal anomaly	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Lumbosacral prespondylolisthesis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Lumbosacral agenesis (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Low assimilation pelvis	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital deformity of lumbosacral region	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital scoliosis due to bony malformation	Due to	True	Congenital anomaly of spine	Inferred relationship	Some	1
Congenital fusion of spine	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Congenital lumbosacral fusion (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
syndrome ischio-vertébral	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Dyssegmental dysplasia with glaucoma syndrome	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Defects of tubular bones and spine (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Congenital sacral meningocele	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Occipitalization of atlas (disorder)	Is a	True	Congenital anomaly of spine	Inferred relationship	Some
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Hypoplasia of sacrum (disorder)	Is a	False	Congenital anomaly of spine	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 spine	Inferred relationship	Some
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	Is a	False	Congenital anomaly of spine	Inferred relationship	Some
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. 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

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Reference Sets

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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
950941000195119	anomalia congenita della colonna vertebrale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4634751000241115	anomalie congénitale du rachis	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module