From HPO
Neurogenic bladder- MedGen UID:
- 595
- •Concept ID:
- C0005697
- •
- Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Toe syndactyly- MedGen UID:
- 75581
- •Concept ID:
- C0265660
- •
- Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Aplasia of the 3rd finger- MedGen UID:
- 869915
- •Concept ID:
- C4024346
- •
- Finding
Absent 3rd finger.
Triangular tibia- MedGen UID:
- 1612259
- •Concept ID:
- C4531241
- •
- Anatomical Abnormality
A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.
Talar aplasia- MedGen UID:
- 1813979
- •Concept ID:
- C5553008
- •
- Congenital Abnormality
Absent talus owing to a congenital defect.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Gastrojejunal tube feeding in infancy- MedGen UID:
- 896852
- •Concept ID:
- C4280681
- •
- Finding
Feeding problem necessitating gastrojejunal tube feeding.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Focal tonic seizure- MedGen UID:
- 199867
- •Concept ID:
- C0752324
- •
- Disease or Syndrome
A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.
Persistent head lag- MedGen UID:
- 256151
- •Concept ID:
- C1141883
- •
- Finding
The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows
Hypoplasia of the brainstem- MedGen UID:
- 334226
- •Concept ID:
- C1842688
- •
- Finding
Underdevelopment of the brainstem.
Cerebellar agenesis- MedGen UID:
- 868414
- •Concept ID:
- C4022808
- •
- Congenital Abnormality
Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
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.
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.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Osteomyelitis- MedGen UID:
- 10497
- •Concept ID:
- C0029443
- •
- Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality