Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Prosthetic limb replacement |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Paralytic syndrome of dominant side as late effect of stroke (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
|
[X]Other reduction defects of unspecified limb(s) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Limb exsanguination by Esmarch bandage (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Lump on extremities |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Perfusion of limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Ameli af uspecificeret arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Longitudinal deficiency of foot |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
longitudinel reduktionsdeformitet af uspecificeret arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Oral-facial-digital syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Manual tourniquet application |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Limb incision |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Layer closure of wounds of extremities |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome IV |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. 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 have a broad range of phenotypic expression. |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Crushing injuries involving multiple regions of upper limb(s) with lower limb(s) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Congenital hyperextension of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Oculodentodigital syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
anden reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Excision neuroma amputation stump |
Procedure site - Direct (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Traumatic amputation of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Limb exsanguination by mechanical exsanguinator |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Lymphedema of limbs due to immobility, chronic dependency and/or venous insufficiency (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Forearm tendon exteriorization cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Longitudinal deficiency of lower limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Trimming of amputation stump |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Simple repair of wounds of extremities |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Orofacial-digital syndrome III |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Macromelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Acquired deformity of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Incision AND drainage of limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Incision AND drainage of limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
2 |
Longitudinal deficiency of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Limb reduction-ichthyosis syndrome (disorder) |
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 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replacement of prosthesis of upper extremity |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
FG syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Ruvalcaba-Myhres syndrom |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
røntgenundersøgelse af ekstremitetsbløddele, ikke nærmere specificeret |
Procedure site - Direct (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Limb operation |
Procedure site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Agenesi af begge forpoter og begge bagpoter |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Multiple malformation syndrome with facial-limb defects as major feature |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Townes syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Anisomelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
Nager syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Longitudinal deficiency of upper limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
CT of limb regions |
Procedure site - Direct (attribute) |
True |
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 |
Cineplastic amputation with cineplastic prosthesis of extremity |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
2 |
Hay-Wells syndrome of ectodermal dysplasia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Partial congenital absence of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
røntgenundersøgelse af ekstremitetsbløddel |
Procedure site - Direct (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Dimelia |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Polymelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Bowed tendon |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
[X]Other specified congenital malformations of limb(s) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Mohr syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Shprintzens syndrom |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Ectromelia |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Implantation af protese for ekstremitet, ikke nærmere specificeret |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Kongenit manglende arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Neoplasm of extremity (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Gas gangrene of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
anden underudvikling af arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Degenerative disorder of extremity |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Elevation of affected extremity (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
duplikation af arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
anden specificeret implantation af ekstremitetsprotese |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
anden underudvikling af arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
underudvikling af hel arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Anden overudvikling af arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Abscess of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Mietens syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Duplication of whole limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Amputation of limb (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Application of tourniquet |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
andre kongenitte arm- eller benanomalier |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Open wound of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Removal of constricting band from limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Hypoplasi i arm eller ben, ikke nærmere specificeret |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Congenital hyperflexion of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Miller syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replacement of prosthesis of extremity, bioelectric or cineplastic |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Congenital complete absence of limb |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
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 |
True |
Limb structure |
Inferred relationship |
Some |
2 |
Examination of limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Reattachment of extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Notomelus (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Inflammatory disorder of extremity |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Ruvalcaba syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Andre specificerede reduktionsdeformiteter af uspecificeret arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Implantation of prosthetic limb device |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Application of limb prosthesis |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
anden duplikation af arm eller ben |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
1 |
Edema of extremity (finding) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Forced extension of limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Fitting of artificial limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
Larsen syndrome |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
Replacement of prosthesis of extremity, bioelectric or cineplastic |
Procedure site - Direct (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |