From HPO
Narrow foot- MedGen UID:
- 108395
- •Concept ID:
- C0576227
- •
- Finding
A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
Coarctation of aorta- MedGen UID:
- 1617
- •Concept ID:
- C0003492
- •
- Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Atrial septal defect, ostium secundum type- MedGen UID:
- 91034
- •Concept ID:
- C0344724
- •
- Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
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.
Cholestasis- MedGen UID:
- 925
- •Concept ID:
- C0008370
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Portal fibrosis- MedGen UID:
- 893107
- •Concept ID:
- C3805083
- •
- Disease or Syndrome
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
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.
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.
Poor speech- MedGen UID:
- 341172
- •Concept ID:
- C1848207
- •
- Finding
Profound global developmental delay- MedGen UID:
- 766364
- •Concept ID:
- C3553450
- •
- Disease or Syndrome
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Multifocal epileptiform discharges- MedGen UID:
- 866864
- •Concept ID:
- C4021219
- •
- Finding
An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).
Increased CSF methionine concentration- MedGen UID:
- 1687420
- •Concept ID:
- C5139595
- •
- Finding
Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.
Prolonged prothrombin time- MedGen UID:
- 208879
- •Concept ID:
- C0853225
- •
- Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
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.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
Hypermethioninemia- MedGen UID:
- 887708
- •Concept ID:
- C4048705
- •
- Disease or Syndrome
An increased concentration of methionine in the blood.
Elevated circulating S-adenosyl-L-homocysteine concentration- MedGen UID:
- 1841887
- •Concept ID:
- C5826621
- •
- Finding
Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.
Elevated circulating S-adenosyl-L-methionine concentration- MedGen UID:
- 1842025
- •Concept ID:
- C5826622
- •
- Finding
Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality