Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spasticity as sequela of stroke (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital hypertonia |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired hypotonia (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Finding of shortened, hypertonic pelvic floor musculature |
Interprets |
False |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pelvic floor dysfunction (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic paraparesis and deafness |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Puerto Rican infant hypotonia syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Female pelvic floor dysfunction (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tightness of bilateral gastrocnemius muscles (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tightness of left gastrocnemius muscle |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tightness of right gastrocnemius muscle (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Traumatic hypotonia (disorder) |
Interprets |
False |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked parkinsonism with spasticity syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Relaxation of pelvic floor |
Interprets |
False |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Childhood-onset spasticity with hyperglycinemia (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cystinuria, type 1 |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypotonia cystinuria syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Atypical hypotonia cystinuria syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Benign congenital hypotonia (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Traumatic hypotonia (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Relaxation of pelvic floor |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - muscle tone normal |
Interprets |
False |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal tone in skeletal muscle |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypotonic-hyporesponsive episode (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Abdominal muscle tone (observable entity) |
Is a |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Finding of shortened, hypertonic pelvic floor musculature |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Allan-Herndon-Dudley syndrome |
Interprets |
False |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Allan-Herndon-Dudley syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic diplegia |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic diplegia of upper limbs (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
GNAO1-related developmental delay, seizures, movement disorder spectrum |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Modified Tardieu Scale quality of muscle reaction score (observable entity) |
Is a |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmia with brain atrophy syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Rigid chest (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Appendicular hypotonia (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Episodic flaccidity of muscle (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Episodic hypotonia |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypotonia of axial muscles occurring in infancy |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypotonia of muscles of mouth region (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypotonia of muscle of face (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
2p21 microdeletion syndrome without cystinuria (disorder) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Severe hypotonia of muscle |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic ataxia (finding) |
Interprets |
True |
Muscle tone |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |