Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Constriction ring syndrome of lower limb with amputation |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Constriction ring of lower limb with lymphedema |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Constriction ring syndrome of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Ulcer of lower limb due to type 2 diabetes mellitus |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Varicose veins of lower limb co-occurrent with edema |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Pain in lower limb on elevation |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
inégalité de longueur des membres inférieurs acquise |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Ischaemic ulcer of lower leg due to atherosclerotic disease |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Duplication of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
brachymélie de la jambe |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
jambe rudimentaire |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Transverse deficiency lower limb - knee level |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Complete phocomelia of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Hypoplasia of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Reduction deformity of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Phocomelia of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Congenital overgrowth of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Correction of congenital deformity of lower limb (procedure) |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Excision of anlage of fibula |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Centralization tarsus correction |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Constriction ring of lower limb with lymphedema |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Excision of anlage of tibia |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Gruca tibial bifurcation procedure |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
ostéoplastie de retournement de la cheville |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Correction of tibial pseudoarthrosis by excision and bone lengthening |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Correction of tibial pseudoarthrosis by free fibula graft |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
Creation of tibiofibular synostosis |
Procedure site - Direct (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Hemiatrophy of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Spastic paraplegia type 15 |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Ultrasonography guided biopsy of lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Ultrasonography guided biopsy of lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Drainage of lower limb using fluoroscopic guidance |
Procedure site - Indirect (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Ultrasonography guided injection of lower limb |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Ultrasonography guided injection of lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Congenital overgrowth of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
écharde dans le membre inférieur sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Gas gangrene of lower limb (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Ultrasonography guided aspiration of lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Ultrasonography guided aspiration of lower limb |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Ectromelia of lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Removal of foreign body from lower limb using imaging guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
hémimélie d'un membre inférieur |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Claudication neurogène concomitante et due à une sténose rachidienne de la région lombaire |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Necrosis of lower leg muscle co-occurrent and due to chronic ulcer of lower leg |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
Avascular necrosis of bone of lower leg due to chronic ulcer of lower extremity (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
Finding of sensation of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Ultrasonography of pelvis and lower extremity (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Ulcerating cutaneous leishmaniasis of lower extremity (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
Computed tomography of lower limb for radiotherapy planning (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Imaging of lower limb (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Biopsy of lower limb using cone beam computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Biopsy of lower limb using cone beam computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Cone beam computed tomography of lower limb (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Cone beam CT guided aspiration of lower limb |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Cone beam CT guided aspiration of lower limb |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Plain X-ray of pelvis and lower limb (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Insertion of drain into lower limb using cone beam computed tomography guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Insertion of drain into lower limb using cone beam computed tomography guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
écharde dans la hanche sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
écharde dans la cuisse sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans le genou sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans la partie inférieure de la jambe sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans la cheville sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans le pied sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans un orteil sans plaie ouverte importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
écharde dans un orteil sans plaie importante, avec infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
No abnormality detected on examination of lower limb (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Computed tomography of lower limb without contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
claudication neurogène intermittente |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Intermittent cauda equina claudication |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Somatic dysfunction of lower limb (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Congenital absence of pelvis and lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
7 |
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
7 |
Drainage of lower limb using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Drainage of lower limb using computed tomography guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
|
Absence of lower limb (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Aspiration of lower limb using fluoroscopic guidance |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
Drainage of lower limb using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
Drainage of lower limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
Dipygus |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |