From HPO
Dislocated radial head- MedGen UID:
- 488814
- •Concept ID:
- C0265563
- •
- Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Genu varum- MedGen UID:
- 154257
- •Concept ID:
- C0544755
- •
- Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Broad distal phalanx of finger- MedGen UID:
- 342551
- •Concept ID:
- C1850630
- •
- Finding
Abnormally wide (broad) distal phalanx of finger.
Narrow femoral neck- MedGen UID:
- 350962
- •Concept ID:
- C1863739
- •
- Finding
An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Carpal bone hypoplasia- MedGen UID:
- 355049
- •Concept ID:
- C1863749
- •
- Finding
Underdevelopment of one or more carpal bones.
Long distal phalanx of finger- MedGen UID:
- 867486
- •Concept ID:
- C4021865
- •
- Anatomical Abnormality
Increased length of the distal phalanx of finger.
Wind-swept deformity of the knees- MedGen UID:
- 867641
- •Concept ID:
- C4022030
- •
- Anatomical Abnormality
The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.
Slender proximal phalanx of finger- MedGen UID:
- 868562
- •Concept ID:
- C4022961
- •
- Anatomical Abnormality
Reduced diameter of the proximal phalanx of finger.
Slender distal phalanx of finger- MedGen UID:
- 868563
- •Concept ID:
- C4022962
- •
- Finding
Reduced diameter of the distal phalanx of finger.
Long proximal phalanx of finger- MedGen UID:
- 870638
- •Concept ID:
- C4025090
- •
- Anatomical Abnormality
Increased length of the proximal phalanx of finger.
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).
Spinal dysraphism- MedGen UID:
- 87487
- •Concept ID:
- C0344479
- •
- Congenital Abnormality
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Congenital hip dislocation- MedGen UID:
- 9258
- •Concept ID:
- C0019555
- •
- Disease or Syndrome
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Radial head subluxation- MedGen UID:
- 56213
- •Concept ID:
- C0149977
- •
- Injury or Poisoning
Partial dislocation of the head of the radius.
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Hypoplasia of the capital femoral epiphysis- MedGen UID:
- 374176
- •Concept ID:
- C1839254
- •
- Finding
Underdevelopment of the proximal epiphysis of the femur.
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis- MedGen UID:
- 334001
- •Concept ID:
- C1842155
- •
- Finding
An abnormal flattening of the proximal epiphysis of the femur.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Irregular epiphyses- MedGen UID:
- 337584
- •Concept ID:
- C1846449
- •
- Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses- MedGen UID:
- 339612
- •Concept ID:
- C1846803
- •
- Finding
Reduction in the size or volume of epiphyses.
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Posterior scalloping of vertebral bodies- MedGen UID:
- 337993
- •Concept ID:
- C1850196
- •
- Finding
An excessive concavity of the posterior surface of one or more vertebral bodies.
Flattened epiphysis- MedGen UID:
- 387844
- •Concept ID:
- C1857527
- •
- Finding
Abnormal flatness (decreased height) of epiphyses.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Caudal interpedicular narrowing- MedGen UID:
- 350247
- •Concept ID:
- C1863734
- •
- Finding
Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.
Delayed patellar ossification- MedGen UID:
- 867238
- •Concept ID:
- C4021597
- •
- Finding
Formation of bone in the patella later than normal.
Delayed phalangeal epiphyseal ossification- MedGen UID:
- 867249
- •Concept ID:
- C4021609
- •
- Finding
Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
Streaky metaphyseal sclerosis- MedGen UID:
- 870796
- •Concept ID:
- C4025253
- •
- Finding
The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
Large joint dislocations- MedGen UID:
- 870803
- •Concept ID:
- C4025260
- •
- Injury or Poisoning
Laryngotracheomalacia- MedGen UID:
- 107947
- •Concept ID:
- C0585984
- •
- Anatomical Abnormality
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality