Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Trisomy 10p (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Steinfeld syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Micromelia (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Oro-facial digital syndrome type 9 (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
X-linked intellectual disability Stevenson type (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Carpenter Waziri syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepiphyseal dysplasia Cantu type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Smith Fineman Myers syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked mandibulofacial dysostosis |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked mandibulofacial dysostosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Renal dysplasia with limb defect syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Renal dysplasia with limb defect syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acrofrontofacionasal dysostosis (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acro-oto-ocular syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrorenal syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocephalopolydactyly (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acro-oto-ocular syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acrocraniofacial dysostosis (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bohring Opitz syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrofrontofacionasal dysostosis (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Craniosynostosis Boston type (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Craniofacial conodysplasia syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Lipoma of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Joubert syndrome with orofaciodigital defect |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Glossopalatine ankylosis (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fuhrmann syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Injection of thrombin into pseudoaneurysm of extremity using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Injection of thrombin into pseudoaneurysm of extremity using fluoroscopic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oro-facial digital syndrome type 10 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Oro-facial digital syndrome type 5 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Oro-facial digital syndrome type 8 |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
foulures répétitives |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial partial lipodystrophy Kobberling type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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 |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
5-amino-4-imidazole carboxamide ribosiduria (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
5-amino-4-imidazole carboxamide ribosiduria (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Functional monoparesis (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acquired valgus deformity of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired varus deformity of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Charlie M syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Adult familial nephronophthisis with spastic quadriparesia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrodynia due to mercury |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Otopalatodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Otopalatodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Interstitial brachytherapy to limb using temporary implant (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Radionuclide measurement of leakage during isolated limb perfusion using technetium (99m-Tc) labeled erythrocytes |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Jawad syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
14q22q23 microdeletion syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coffin-Lowry syndrome (disorder) |
Finding site |
False |
Limb structure |
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 |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fuhrmann syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charlie M syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudoaminopterin syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Miller syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
à l'examen : extrémités froides |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis Boston type (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
plainte : extrémités froides |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Jawad syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cold extremity (finding) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrofrontofacionasal dysostosis (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrorenal syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability Stevenson type (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Stickler syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Larsen syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocraniofacial dysostosis (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniofacial conodysplasia syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Emery Nelson syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Implantation of cineplastic prosthesis of biceps |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Implantation of prosthetic device of lower limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |