From HPO
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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.
Ectopic posterior pituitary- MedGen UID:
- 481201
- •Concept ID:
- C3279571
- •
- Finding
An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
Posterior pituitary hypoplasia- MedGen UID:
- 868797
- •Concept ID:
- C4023202
- •
- Anatomical Abnormality
Underdevelopment of the neurohypophysis.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Neonatal hypoglycemia- MedGen UID:
- 57646
- •Concept ID:
- C0158986
- •
- Finding
Blood glucose concentration below the lower limit of established reference ranges in a newborn.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
Decreased thyroid-stimulating hormone level- MedGen UID:
- 717708
- •Concept ID:
- C1295607
- •
- Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Decreased circulating follicle stimulating hormone concentration- MedGen UID:
- 892977
- •Concept ID:
- C4072889
- •
- Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level- MedGen UID:
- 893008
- •Concept ID:
- C4072890
- •
- Finding
A reduction in the circulating level of luteinizing hormone (LH).
Reduced circulating growth hormone concentration- MedGen UID:
- 1815075
- •Concept ID:
- C5706169
- •
- Finding
Concentration of growth hormone in the blood circulation below normal limits.
Decreased circulating ACTH concentration- MedGen UID:
- 1841520
- •Concept ID:
- C5826343
- •
- Finding
The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the nervous system
- Growth abnormality