Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Entire left thigh |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left knee |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left lower leg |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left posterior tibial artery |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left foot |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left ankle |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left femoral artery |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left femoral artery (body structure) |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left popliteal artery |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left foot |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Left popliteal artery structure (body structure) |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left lower leg (body structure) |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left ankle |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left thigh |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of left knee region (body structure) |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Entire left posterior tibial artery |
partie de |
False |
Entire left lower limb (body structure) |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Tetra-amelia syndrome |
Finding site |
True |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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 left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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 left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amputation of entire left lower limb and ipsilateral hemipelvis |
Procedure site - Direct (attribute) |
True |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital absence of left lower limb (disorder) |
Finding site |
False |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital complete absence of bilateral lower limbs |
Finding site |
True |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral complete phocomelia of lower limb |
Finding site |
True |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital complete absence of left lower limb |
Finding site |
True |
Entire left lower limb (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |