Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Longitudinal deficiency of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Short rib-polydactyly syndrome, Majewski type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital bony fusion of phalanges (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Short rib-polydactyly syndrome, non-Majewski type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ectromelia of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ectrodactyly (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital complete absence of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dimelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ectromelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Split foot |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hand - first cleft |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Talipes equinus |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Micromelia (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
McKusick Kaufman syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Holt-Oram syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Transverse deficiency of arm, upper arm level - long (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Transverse deficiency of arm, upper arm level - short |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
hémimélie d'un membre supérieur |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
anomalie transverse du bras au niveau de l'avant-bras |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Brachymetapodia of first metatarsal |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Brachymetapodia of fourth metatarsal |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ectrodactyly-ectodermal dysplasia-clefting syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Roberts-SC phocomelia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ruvalcaba-Myhre syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Stickler syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Mohr syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Orofacial-digital syndrome IV |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Oral-facial-digital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Orofacial-digital syndrome III |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Miller syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Larsen syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Nager syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ruvalcaba syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mietens syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oto-palato-digital syndrome, type II |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Multiple malformation syndrome with facial-limb defects as major feature |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hay-Wells syndrome of ectodermal dysplasia (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trichorhinophalangeal syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oto-palato-digital syndrome, type I |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
FG syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Townes syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oculodentodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tetra-amelia syndrome |
Finding site |
False |
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) |
5 |
Jeune thoracic dystrophy (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cineplastic amputation with cineplastic prosthesis of extremity (procedure) |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anisomelia |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Phocomelia (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Notomelus |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dimelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ectromelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital malrotation of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Limb reduction-ichthyosis syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal deficiency of foot |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
membre atrophié |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Roberts-SC phocomelia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
microsomie partielle |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal deficiency of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Micromelia (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Polymelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital hyperextension of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Constricting band of extremity (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital hyperflexion of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Biopsy of limb (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drainage of limb using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Drainage of limb using fluoroscopic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ultrasonography guided drainage of limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ultrasonography guided drainage of limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
CT of limb with contrast |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Magnetic resonance imaging of limb with contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fluoroscopic fistulography of limb with contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Biopsy of limb using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Biopsy of limb using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ultrasonography of limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Forearm tendon exteriorization cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Plain X-ray of limb (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cineplasty with cineplastic prosthesis of lower extremity |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Gas gangrene of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Biopsy of limb using ultrasound guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Biopsy of limb using ultrasound guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial partial lipodystrophy type 2 (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmomandibulomelic dysplasia |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmomandibulomelic dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Seaver Cassidy syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Seaver Cassidy syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pseudoaminopterin syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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 |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Steinfeld syndrome (disorder) |
Finding site |
True |
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) |
6 |
Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |