Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital kyphosis |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of spine |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of spinal cord |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal arteriovenous malformation |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cobb's syndrome |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital lordosis/scoliosis |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital postural lordosis |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sacral agenesis |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of spine |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoplasia of spine |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
deformità congenita della colonna vertebrale |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
incurvation posturale congénitale de la colonne vertébrale |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cobb's syndrome |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital stenosis of cervical spinal canal (disorder) |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
MEDNIK-Syndrom |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spinal arteriovenous malformation |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of sacroiliac joint |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic dysostosis disorder with characteristics of 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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
dysgénésie de la queue de cheval |
Is a |
False |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital stenosis of spinal canal (disorder) |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of cauda equina (disorder) |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare syndromic central nervous system malformation characterised 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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital postural scoliosis |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sacral dysgenesis |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, genetic, developmental defect during embryogenesis disorder characterised 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 (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of blood vessel of spine (disorder) |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pygopagus |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital lordosis deformity of spine (disorder) |
Is a |
True |
Congenital anomaly of vertebral region of back (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|