From HPO
Gastrointestinal dysmotility- MedGen UID:
- 324638
- •Concept ID:
- C1836923
- •
- Finding
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Sensorineural hearing impairment- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Pain insensitivity- MedGen UID:
- 488855
- •Concept ID:
- C0344307
- •
- Finding
Inability to perceive painful stimuli.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Impaired vibratory sensation- MedGen UID:
- 220959
- •Concept ID:
- C1295585
- •
- Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Impaired proprioception- MedGen UID:
- 346424
- •Concept ID:
- C1856691
- •
- Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Hyposmia- MedGen UID:
- 473584
- •Concept ID:
- C2364082
- •
- Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
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.
Impaired temperature sensation- MedGen UID:
- 866867
- •Concept ID:
- C4021222
- •
- Finding
A reduced ability to discriminate between different temperatures.
Hypoesthesia- MedGen UID:
- 989417
- •Concept ID:
- CN307360
- •
- Finding
Decreased ability to perceive touch.
Corneal scarring- MedGen UID:
- 83899
- •Concept ID:
- C0349702
- •
- Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Corneal ulceration- MedGen UID:
- 40486
- •Concept ID:
- C0010043
- •
- Disease or Syndrome
Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Decreased lacrimation- MedGen UID:
- 116004
- •Concept ID:
- C0235857
- •
- Finding
Abnormally decreased lacrimation, that is, reduced ability to produce tears.
- Abnormality of the digestive system
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system