Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Implantation of prosthetic device of lower limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Implantation of prosthetic device of lower leg |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Biceps tunnel cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Implantation of kineplastic prosthesis for limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Implantation of cineplastic prosthesis of upper arm |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Inherited congenital spastic tetraplegia (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Distichiasis-lymphedema syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gangrene of limb due to atherosclerosis of artery of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Biceps tunnel cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Injected limb mobility decreased |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adams-Oliver syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Erythrocyanosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Erythrocyanosis with nodules |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Light-cured polymer limb orthosis (physical object) |
Has device intended site (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Superficial injuries involving multiple regions of upper limb(s) with lower limb(s) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrodynia due to mercury |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Myocutaneous flap to extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare, genetic lipodystrophy characterised by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
LIPE-related familial partial lipodystrophy |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Reconstruction of extremity using flap |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Attachment of pedicle graft to extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Primary lymphedema |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lymphedema praecox |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lymphedema tardum (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary lymphedema |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Emberger syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary lymphedema type I |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary lymphedema type II (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary lymphedema and yellow nails (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cholestasis-oedema syndrome, Norwegian type |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hennekam lymphangiectasia-lymphoedema syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lymphedema with systemic and visceral involvement (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lymphoedema with systemic involvement |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lymphedema with visceral involvement (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lymphedema due to syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Fetal encasement syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
EPHB4-related lymphatic-related hydrops fetalis |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital primary lymphedema of Gordon (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gap junction protein gamma 2-related late-onset primary lymphedema (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
20q11.2 microdeletion syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
PDE4D haploinsufficiency syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drainage of limb using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ultrasonography guided drainage of limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Waardenburg syndrome type 3 (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Replacement of prosthesis of extremity, bioelectric or cineplastic (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital dysplasia of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gunshot wound of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic primary musculoskeletal limb pain |
Finding site |
False |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Division of constricting band on limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Release of constriction ring (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Release of constriction ring (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Division of constricting band on limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
KLHL7-related Bohring Opitz-like syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lacunar ataxic hemiparesis of right dominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lacunar ataxic hemiparesis of left dominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lacunar ataxic hemiparesis of left nondominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lacunar ataxic hemiparesis of right nondominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cineplastic amputation with cineplastic prosthesis of extremity (procedure) |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cineplastic amputation |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Interstitial brachytherapy to limb using temporary implant (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alkuraya Kucinskas syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aplasia of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysmetria of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Impaired tactile sensation of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor of limb (finding) |
Finding site |
True |
Limb structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |