Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Trisomy 10p |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Steinfeld syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Mullerian duct and limb anomalies syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Micromelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Hydrocephalus with cleft palate and joint contracture syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
8 |
Oro-facial digital syndrome type 9 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
8 |
Oro-facial digital syndrome type 11 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
11 |
X-linked intellectual disability Stevenson type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Carpenter Waziri syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Smith Fineman Myers syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Pterygium colli with intellectual disability and digital anomaly syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Pyknoachondrogenesis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked mandibulofacial dysostosis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked mandibulofacial dysostosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Renal dysplasia with limb defect syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Renal dysplasia with limb defect syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Acrofrontofacionasal dysostosis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Acrootoocular syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Acrorenal syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Acrocephalopolydactyly |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Acrootoocular syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Acrocraniofacial dysostosis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Bohring Opitz syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Acrofrontofacionasal dysostosis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Alopecia, contracture, dwarfism, intellectual disability syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Craniosynostosis Boston type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Craniofacial conodysplasia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Oromandibular-limb hypogenesis spectrum |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
7 |
Lipoma of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Joubert syndrome with orofaciodigital defect |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Glossopalatine ankylosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Fuhrmann syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Injection of thrombin into pseudoaneurysm of extremity using fluoroscopic guidance |
Procedure site - Indirect |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Injection of thrombin into pseudoaneurysm of extremity using fluoroscopic guidance |
Procedure site - Direct |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Oro-facial digital syndrome type 10 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Oro-facial digital syndrome type 5 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Oro-facial digital syndrome type 8 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
6 |
Repetitive strain injury |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Familial partial lipodystrophy Kobberling type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Craniomicromelic syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
5-amino-4-imidazole carboxamide ribosiduria |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
5-amino-4-imidazole carboxamide ribosiduria |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Functional monoparesis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Acquired valgus deformity of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acquired varus deformity of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Charlie M syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
7 |
Adult familial nephronophthisis with spastic quadriparesia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acrodynia due to mercury poisoning |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Otopalatodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Otopalatodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Radiotherapy: temporary limb implant |
Procedure site - Indirect |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Radionuclide measurement of leakage during isolated limb perfusion using technetium (99m-Tc) labeled erythrocytes |
Procedure site - Indirect |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Jawad syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
14q22q23 microdeletion syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Coffin-Lowry syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Craniomicromelic syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hydrocephalus with cleft palate and joint contracture syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
4 |
Fuhrmann syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Charlie M syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudoaminopterin syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Miller syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
On examination - cold extremities |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Craniosynostosis Boston type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Complaining of cold extremities |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Deafness with epiphyseal dysplasia and short stature syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Jawad syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
5 |
Cold extremity |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acrofrontofacionasal dysostosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia, contracture, dwarfism, intellectual disability syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Acrorenal syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Stevenson type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Stickler syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
3 |
Larsen syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acrocraniofacial dysostosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofacial conodysplasia syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pterygium colli with intellectual disability and digital anomaly syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pyknoachondrogenesis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Emery Nelson syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier |
1 |
Implantation of cineplastic prosthesis of biceps |
Procedure site - Indirect |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |
Implantation of prosthetic device of lower limb |
Procedure site - Indirect |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier |
2 |