Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Transverse deficiency of arm, upper arm level - long |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Partial defect of ulna |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Kongenit manglende finger, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Transverse deficiency lower limb - hip level |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Transverse deficiency lower limb - metatarsal level |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Transverse deficiency lower limb - through femur |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Transverse deficiency lower limb - through tibia/fibula |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Smerte i arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
|
traumatisk amputation af arm, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
4 |
anden revision af amputationsstump |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
|
Trimming - amputation stump |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Angiokeratoma of Mibelli |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Neuroma of amputation stump |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Reattachment of upper extremity |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replantation of whole arm (procedure) |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replantation of thumb |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Replantation of hallux |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Lipoma of axilla |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Abscess of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Brachymesophalangia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replantation of arm after complete amputation |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome III |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome IV |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Replantation of multiple fingers |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Removal of constricting band from limb |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
CT of elbow |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
CT of forearm |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
CT of hand |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT of hip |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
CT of thigh |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT of lower leg |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT of ankle |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT of foot |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT arthrogram of shoulder |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Computed tomography arthrogram of elbow (procedure) |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT arthrogram of wrist |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT arthrogram of hip |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
CT arthrogram of knee |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT arthrogram of ankle |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Perodaktyli |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Trichorhinophalangeal dysplasia type I |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replantation of lower leg |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Amputation incision |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Symmetrical flap incision |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Skew flap incision |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Long posterior flap incision |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Racquet incision (procedure) |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Limb incision |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Reattachment of finger |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT af struktur i overekstremitetsregion |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT af struktur i underekstremitetsregion |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT af struktur i albueregion |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT of hip region structure |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT af struktur i ankelregion |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Abscess of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Neoplasm of skin of axilla |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of skin of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of bone of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of long bone of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of short bone of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of soft tissues of shoulder |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of soft tissues of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of muscle of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of axilla |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of shoulder |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of upper arm (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of forearm |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Neoplasm of hand |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Abscess of shoulder |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Mohr syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Trichorhinophalangeal syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Reattachment of fingers and thumb |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Aksial CT af underekstremitet med kontrast |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Abscess of finger |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Multiple malformation syndrome with facial-limb defects as major feature |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Townes syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
CT of upper extremity with contrast |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Weill-Marchesani syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Notomelus (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Ruvalcaba syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Pulp abscess of finger |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Dimelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Nager syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Abscess of wrist |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Abscess of hand |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Oculodentodigital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Brachyphalangia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Mietens syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Langer-Giedion syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Brachydactyly |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Perfusion of upper limb (procedure) |
Procedure site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Ruvalcaba-Myhres syndrom |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Roberts-SC phocomelia syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
FG syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |