From HPO
Clitoral hypertrophy- MedGen UID:
- 57848
- •Concept ID:
- C0156394
- •
- Finding
Hypertrophy of the clitoris.
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Long penis- MedGen UID:
- 82837
- •Concept ID:
- C0269011
- •
- Finding
Penile length more than 2 SD above the mean for age.
Hypoplasia of the vagina- MedGen UID:
- 91040
- •Concept ID:
- C0345309
- •
- Congenital Abnormality
Developmental hypoplasia of the vagina.
Ambiguous genitalia, female- MedGen UID:
- 892752
- •Concept ID:
- C4025891
- •
- Congenital Abnormality
Ambiguous genitalia in an individual with XX genetic gender.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
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).
Accelerated skeletal maturation- MedGen UID:
- 154262
- •Concept ID:
- C0545053
- •
- Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Congenital adrenal hyperplasia- MedGen UID:
- 7900
- •Concept ID:
- C0001627
- •
- Disease or Syndrome
A type of adrenal hyperplasia with congenital onset.
Increased circulating androstenedione concentration- MedGen UID:
- 1386637
- •Concept ID:
- C0240995
- •
- Finding
Increased concentration of androstenedione in the blood circulation.
Adrenogenital syndrome- MedGen UID:
- 86215
- •Concept ID:
- C0302280
- •
- Disease or Syndrome
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
Decreased circulating aldosterone concentration- MedGen UID:
- 208996
- •Concept ID:
- C0857899
- •
- Finding
Abnormally reduced levels of aldosterone.
Decreased circulating renin concentration- MedGen UID:
- 337182
- •Concept ID:
- C1845206
- •
- Finding
An decreased level of renin in the blood.
Precocious puberty in males- MedGen UID:
- 347989
- •Concept ID:
- C1859979
- •
- Finding
The onset of puberty before the age of 9 years in boys.
Increased serum testosterone level- MedGen UID:
- 892551
- •Concept ID:
- C4072885
- •
- Finding
An elevated circulating testosterone level in the blood.
Elevated serum 11-deoxycortisol- MedGen UID:
- 1387192
- •Concept ID:
- C4476775
- •
- Finding
Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality