From HPO
Elevated urinary bile alcohol level- MedGen UID:
- 1052809
- •Concept ID:
- CN378359
- •
- Finding
The amount of bile alcohol in the urine, normalized for urine concentration, is above the upper limit of normal.
Ankle clonus- MedGen UID:
- 68672
- •Concept ID:
- C0238651
- •
- Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
Angina pectoris- MedGen UID:
- 1929
- •Concept ID:
- C0002962
- •
- Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Myocardial infarction- MedGen UID:
- 10150
- •Concept ID:
- C0027051
- •
- Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Cholelithiasis- MedGen UID:
- 3039
- •Concept ID:
- C0008350
- •
- Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Delusion- MedGen UID:
- 3715
- •Concept ID:
- C0011253
- •
- Mental or Behavioral Dysfunction
A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent
Hallucinations- MedGen UID:
- 6709
- •Concept ID:
- C0018524
- •
- Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Pseudobulbar paralysis- MedGen UID:
- 10989
- •Concept ID:
- C0033790
- •
- Disease or Syndrome
Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormal pyramidal sign- MedGen UID:
- 68582
- •Concept ID:
- C0234132
- •
- Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Abnormal periventricular white matter morphology- MedGen UID:
- 435926
- •Concept ID:
- C2673431
- •
- Finding
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
EEG with generalized slow activity- MedGen UID:
- 866862
- •Concept ID:
- C4021217
- •
- Finding
Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Abnormal dentate nucleus morphology- MedGen UID:
- 867758
- •Concept ID:
- C4022148
- •
- Anatomical Abnormality
An abnormality of the dentate nucleus.
Delayed somatosensory central conduction time- MedGen UID:
- 867773
- •Concept ID:
- C4022163
- •
- Finding
An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).
Elevated CSF cholestanol concentration- MedGen UID:
- 1863532
- •Concept ID:
- C5937034
- •
- Finding
The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Tendon xanthomatosis- MedGen UID:
- 450999
- •Concept ID:
- C0221253
- •
- Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
EMG: axonal abnormality- MedGen UID:
- 871138
- •Concept ID:
- C4025609
- •
- Pathologic Function
Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Abnormal circulating cholesterol concentration- MedGen UID:
- 871179
- •Concept ID:
- C4025656
- •
- Finding
Any deviation from the normal concentration of cholesterol in the blood circulation.
Elevated circulating bile alcohol concentration- MedGen UID:
- 1863906
- •Concept ID:
- C5937542
- •
- Finding
The concentration of bile alcohols in the blood circulation is above the upper limit of normal.
Xanthomatosis- MedGen UID:
- 21939
- •Concept ID:
- C0043325
- •
- Disease or Syndrome
The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
Xanthelasma- MedGen UID:
- 56357
- •Concept ID:
- C0155210
- •
- Disease or Syndrome
The presence of xanthomata in the skin of the eyelid.
Tuberous xanthoma- MedGen UID:
- 86213
- •Concept ID:
- C0302164
- •
- Disease or Syndrome
A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Optic disc pallor- MedGen UID:
- 108218
- •Concept ID:
- C0554970
- •
- Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system