Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Postoperative meningocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Traumatic meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipomeningocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lateral meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Meningocele of vertex (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lipomeningocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningocele of vertex (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Postoperative meningocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningocele - cranial |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Traumatic meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lateral meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningocele - cerebral |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Myelomeningocele without hydrocephalus (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lipomyelomeningocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Exstrophy of cloaca sequence |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Exstrophy of cloaca sequence |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Exstrophy of cloaca sequence |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Exstrophy of cloaca sequence |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Congenital sacral meningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Myelomeningocele and hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Myelomeningocele and hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Protrusion of upper lip (finding) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Protrusive lower lip |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myelomeningocele and hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Myelomeningocele and hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital tracheocele |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hydrencephalomeningocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mandibular prognathism |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
hydroméningocèle |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
hydroméningocèle crânienne congénitale |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Maxillary prognathism |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital prognathism |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant prognathism of mandible (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Protrusion of tooth (finding) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial omphalocele syndrome with facial dysmorphism (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myelocele with hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
hydromyélocèle |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital protrusion of tongue |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic myelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of lipomeningocele (procedure) |
Direct morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dens evaginatus (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical hydromyelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbar hydromyelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thoracic hydromyelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hydromyelocele with hydrocephalus |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Laryngotomy with removal of laryngocele |
Direct morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired myelocele (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tracheocele (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encephalomyelocele |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Zechi Ceide syndrome |
Associated morphology |
False |
Protrusion |
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 |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical myelocele (disorder) |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbar myelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thoracic myelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervical hydromyelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracic hydromyelocele |
Associated morphology |
False |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bimaxillary protrusion |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bimaxillary protrusion |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Protrusion of prosthetic breast implant (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteotomy of mandible and retrusion of mandible |
Direct morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Protrusion of intraocular lens |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Protrusion of cardiac device |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired keratoglobus |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital keratoglobus |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Keratoglobus |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intrapelvic protrusion of right acetabulum (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intrapelvic protrusion of left acetabulum (disorder) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Protrusion of bone (finding) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intrapelvic protrusion of acetabulum of bilateral hips |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intrapelvic protrusion of acetabulum of bilateral hips |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Prominent forehead (finding) |
Associated morphology |
True |
Protrusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |