Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Lumbar spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frontoethmoidal encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningoencephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Meningoencephalocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital spinal hydromeningocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
fente nasale congénitale |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bifid nose (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal spina bifida (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Retinal detachment and occipital encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nasofrontal encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Zechi Ceide syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nasopharyngeal encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Occipital encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical spinal hydromeningocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lumbar myelocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital laryngocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encephalocystocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical spinal meningocele (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Faun tail syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical meningomyelocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic meningomyelocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracic hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lumbar hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Schizencephaly |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Double outlet right ventricle with doubly committed ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniorachischisis |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pancreas divisum - complete (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancreas divisum - incomplete (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
hydromyélocèle |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscular ventricular septal defect in trabecular septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pancreas divisum |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fetal cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Eisenmenger ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Basal encephalocele (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of bilateral maculae (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of bilateral maculae (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral coloboma of lens |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral coloboma of lens |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital coronal cleft of vertebra (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital coloboma of right lens (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of left lens |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of right eyelid (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of bilateral optic discs (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of bilateral optic discs (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital coloboma of left optic disc |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of right optic disc |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of left eyelid |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbar hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervical hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thoracic hydromyelocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Inferior muscular trabecular ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Temporal encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parietal encephalocele (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Zechi Ceide syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Retinal detachment and occipital encephalocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Outlet ventricular septal defect with posteriorly malaligned outlet septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Outlet ventricular septal defect with anteriorly malaligned outlet septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anterior muscular trabecular ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Perimembranous inlet ventricular septal defect (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscular ventricular septal defect opening to right ventricular inlet |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic myelocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocardiofacial syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of bilateral eyelids |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of bilateral eyelids |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervicothoracic spina bifida aperta with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervicothoracic spina bifida aperta with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervicothoracic spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervicothoracic spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cheilognathoprosoposchisis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital macrostomia (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft lip sequence (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Central cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Central complete cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Central incomplete cleft palate with cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cheilognathouranoschisis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral congenital macrostomia |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral complete and incomplete cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |