From HPO
Bilateral cryptorchidism- MedGen UID:
- 96568
- •Concept ID:
- C0431663
- •
- Congenital Abnormality
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Mild proteinuria- MedGen UID:
- 868438
- •Concept ID:
- C4022832
- •
- Finding
Mildly increased levels of protein in the urine (150-500 mg per day in adults).
Intrahepatic cholestasis- MedGen UID:
- 3042
- •Concept ID:
- C0008372
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
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.
Nasogastric tube feeding- MedGen UID:
- 847783
- •Concept ID:
- C3853581
- •
- Medical Device
The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.
Opisthotonus- MedGen UID:
- 56246
- •Concept ID:
- C0151818
- •
- Sign or Symptom
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Generalized tonic seizure- MedGen UID:
- 322935
- •Concept ID:
- C1836508
- •
- Disease or Syndrome
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
Severe global developmental delay- MedGen UID:
- 332436
- •Concept ID:
- C1837397
- •
- Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Secondary microcephaly- MedGen UID:
- 608952
- •Concept ID:
- C0431352
- •
- Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Poor head control- MedGen UID:
- 322809
- •Concept ID:
- C1836038
- •
- Finding
Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
Increased serum bile acid concentration- MedGen UID:
- 868605
- •Concept ID:
- C4023004
- •
- Finding
An increase in the concentration of bile acid in the blood.
High myopia- MedGen UID:
- 78759
- •Concept ID:
- C0271183
- •
- Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Esodeviation- MedGen UID:
- 1641033
- •Concept ID:
- C4551734
- •
- Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system