From HPO
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Ankle flexion contracture- MedGen UID:
- 332440
- •Concept ID:
- C1837407
- •
- Anatomical Abnormality
Aplasia/Hypoplasia of the fibula- MedGen UID:
- 341608
- •Concept ID:
- C1856732
- •
- Finding
Absence or underdevelopment of the fibula.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Ear malformation- MedGen UID:
- 75618
- •Concept ID:
- C0266589
- •
- Congenital Abnormality
An abnormality of the ear.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Prominent superior crus of antihelix- MedGen UID:
- 866834
- •Concept ID:
- C4021188
- •
- Finding
Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Hip contracture- MedGen UID:
- 140815
- •Concept ID:
- C0409354
- •
- Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Straight clavicles- MedGen UID:
- 870568
- •Concept ID:
- C4025016
- •
- Anatomical Abnormality
An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
Abnormality of the nail- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormality of the nail.
- Abnormality of limbs
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation