From HPO
Bowel incontinence- MedGen UID:
- 41977
- •Concept ID:
- C0015732
- •
- Disease or Syndrome
Involuntary fecal soiling in adults and children who have usually already been toilet trained.
Urinary incontinence- MedGen UID:
- 22579
- •Concept ID:
- C0042024
- •
- Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency- MedGen UID:
- 39315
- •Concept ID:
- C0085606
- •
- Finding
Urge incontinence is the strong, sudden need to urinate.
Urinary bladder sphincter dysfunction- MedGen UID:
- 334804
- •Concept ID:
- C1843663
- •
- Finding
Abnormal function of a sphincter of the urinary bladder.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
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).
Clonus- MedGen UID:
- 40341
- •Concept ID:
- C0009024
- •
- Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Paraplegia- MedGen UID:
- 45323
- •Concept ID:
- C0030486
- •
- Disease or Syndrome
Severe or complete weakness of both lower extremities with sparing of the upper extremities.
Psychosis- MedGen UID:
- 19568
- •Concept ID:
- C0033975
- •
- Mental or Behavioral Dysfunction
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
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.
Spastic paraplegia- MedGen UID:
- 20882
- •Concept ID:
- C0037772
- •
- Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic gait- MedGen UID:
- 115907
- •Concept ID:
- C0231687
- •
- Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Peripheral axonal neuropathy- MedGen UID:
- 266071
- •Concept ID:
- C1263857
- •
- Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Lower limb spasticity- MedGen UID:
- 220865
- •Concept ID:
- C1271100
- •
- Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Abnormal cerebellum morphology- MedGen UID:
- 400925
- •Concept ID:
- C1866129
- •
- Anatomical Abnormality
Any structural abnormality of the cerebellum.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Emotional lability- MedGen UID:
- 504567
- •Concept ID:
- CN000669
- •
- Finding
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Macular degeneration- MedGen UID:
- 7434
- •Concept ID:
- C0024437
- •
- Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal degeneration- MedGen UID:
- 48432
- •Concept ID:
- C0035304
- •
- Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom