From HPO
Sinoatrial block- MedGen UID:
- 19984
- •Concept ID:
- C0037188
- •
- Disease or Syndrome
Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.
Abnormal electrophysiology of sinoatrial node origin- MedGen UID:
- 868812
- •Concept ID:
- C4023222
- •
- Anatomical Abnormality
An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.
Febrile seizure (within the age range of 3 months to 6 years)- MedGen UID:
- 3232
- •Concept ID:
- C0009952
- •
- Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Intellectual disability, progressive- MedGen UID:
- 337397
- •Concept ID:
- C1846149
- •
- Mental or Behavioral Dysfunction
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Keratoconus- MedGen UID:
- 44015
- •Concept ID:
- C0022578
- •
- Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the nervous system