Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Entire right thigh (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right knee (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right lower leg (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right posterior tibial artery |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right foot |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right ankle (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right thigh |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right popliteal artery |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right lower leg (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right popliteal artery |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right ankle (body structure) |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right knee region |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of right foot |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire right posterior tibial artery |
partie de |
False |
Entire right lower limb |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Tetra-amelia syndrome |
Finding site |
False |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Tetra-amelia syndrome |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Finding site |
False |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Amputation of entire right lower limb and ipsilateral hemipelvis (procedure) |
Procedure site - Direct (attribute) |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital absence of right lower limb |
Finding site |
False |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital complete absence of bilateral lower limbs |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral complete phocomelia of lower limb |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital complete absence of right lower limb |
Finding site |
True |
Entire right lower limb |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |