Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Linear fracture of skull due to birth trauma (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Frontonasal dysplasia sequence |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pai syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Cephalhematoma deformans of Schuller (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Depressed fracture of skull due to birth trauma (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complex wound of head with avulsive loss of part of skull and cranial contents (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Parietal lift (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Familial scaphocephaly syndrome McGillivray type (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Delayed membranous cranial ossification (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
crâne entier |
Is a |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Goodman-Syndrom |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
syndrome de Summitt |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
SCARF syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Exostosis of skull (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis Herrmann Opitz type (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Oculomaxillofacial dysostosis |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniofaciofrontodigital syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniofaciofrontodigital syndrome (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculomaxillofacial dysostosis |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired postural plagiocephaly |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cephalhematoma deformans of Schuller (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parietal foramina with clavicular hypoplasia |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fine Lubinsky syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrofrontofacionasal dysostosis (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cranioosteoarthropathy (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleidocranial dysostosis |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Craniosynostosis and intracranial calcification syndrome |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniofacial dyssynostosis syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pai syndrome |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Frontonasal dysplasia sequence |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Retinal detachment and occipital encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Encephalocystocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
DK phocomelia syndrome (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrofrontofacionasal dysostosis type 2 |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nasofrontal encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nasopharyngeal encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability with plagiocephaly syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encephalocele of orbit |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis Philadelphia type (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrofrontofacionasal dysostosis type 2 |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis Boston type (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cerebral meningocele |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystic dermoid choristoma of skull |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial osteodysplasia Anderson type |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Zechi Ceide syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniosynostosis and dental anomalies syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Incomplete ossification of skull (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningoencephalocele |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
CT of skull |
Procedure site - Direct (attribute) |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nasal encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain stem laceration with open intracranial wound AND prolonged loss of consciousness (more than 24 hours) AND return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain stem laceration with open intracranial wound AND moderate loss of consciousness (1-24 hours) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain stem laceration with open intracranial wound AND concussion |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebellar laceration with open intracranial wound AND prolonged loss of consciousness (more than 24 hours) AND return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cortex laceration with open intracranial wound AND concussion |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain stem laceration with open intracranial wound |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortex laceration with open intracranial wound (disorder) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brain stem laceration with open intracranial wound AND prolonged loss of consciousness (more than 24 hours) without return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brain stem laceration with open intracranial wound AND loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebellar laceration with open intracranial wound AND loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cortex laceration with open intracranial wound, with less than 1 hour loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebellar laceration with open intracranial wound AND moderate loss of consciousness (1-24 hours) |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cortex laceration with open intracranial wound, with no loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortex laceration with open intracranial wound, with 1-24 hours loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortex laceration with open intracranial wound, with more than 24 hours loss of consciousness and return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortex laceration with open intracranial wound, with more than 24 hours loss of consciousness without return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cerebellar laceration with open intracranial wound AND concussion |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cortex laceration with open intracranial wound AND loss of consciousness |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebellar laceration with open intracranial wound |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebellar laceration with open intracranial wound AND prolonged loss of consciousness (more than 24 hours) without return to pre-existing conscious level |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nasofrontal encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nasopharyngeal encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniorhiny (disorder) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Replacement of Vinke tongs of skull |
Procedure site - Indirect (attribute) |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Laceration of brain with open intracranial wound |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Retinal detachment and occipital encephalocele |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Zechi Ceide syndrome |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Occipital encephalocele |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial osteodysplasia Anderson type |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
False |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteomyelitis of cranium |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperostosis of skull (finding) |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dermoid cyst of skull |
Finding site |
True |
Bone structure of cranium |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |