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).
Anterior pituitary hypoplasia- MedGen UID:
- 347950
- •Concept ID:
- C1859775
- •
- Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
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.
Anterior pituitary agenesis- MedGen UID:
- 866893
- •Concept ID:
- C4021249
- •
- Finding
Absence of the anterior pituitary gland resulting from a developmental defect.
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).
Decreased serum insulin-like growth factor 1- MedGen UID:
- 892792
- •Concept ID:
- C4072897
- •
- Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Absent pituitary stalk- MedGen UID:
- 1795565
- •Concept ID:
- C5563355
- •
- Congenital Abnormality
A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.
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.
Interrupted pituitary stalk- MedGen UID:
- 1841791
- •Concept ID:
- C5826809
- •
- Congenital Abnormality
A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the nervous system
- Growth abnormality