Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital deformity of chest wall (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of abdominal wall |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of lumbar vertebra |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lumbar spina bifida with hydrocephalus |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of pelvic bones |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of sacroiliac joint |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of rib |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of pectoral muscle (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital malformation of sternum (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital asymmetry of tonsils |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital fusion of sacroiliac joint |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital lumbosacral fusion |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acropectororenal dysplasia |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital wide symphysis pubis (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital eventration of left crus of diaphragm |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital eventration of right crus of diaphragm |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital thoracostenosis |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thoracoschisis |
Is a |
True |
Congenital anomaly of body wall |
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 body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoplasia of sacrum |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sacral agenesis |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Holoprosencephaly with caudal dysgenesis syndrome |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pygopagus |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Caudal regression syndrome |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital malformation of anterior abdominal wall (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deformity of lumbosacral joint |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lumbosacral agenesis |
Is a |
False |
Congenital anomaly of body wall |
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 |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Limb body wall complex |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cleidocranial dysostosis |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pseudoarthrosis of clavicle (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital abnormal shape of clavicle |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hypoplasia of clavicle |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Agenesis of clavicle |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lack of ossification of clavicle (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital thickening of clavicle |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Crane Heise syndrome (disorder) |
Is a |
False |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Incomplete ossification of clavicle |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cleidorhizomelic syndrome (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lumbar myelocystocele (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aplasia of clavicle |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aplasia of muscle of abdominal wall (disorder) |
Is a |
True |
Congenital anomaly of body wall |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|