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Pediatric Disorders Dataset – Child Health Conditions & Disorders
Pediatric Disorders Dataset
The Pediatric Disorders Dataset is a structured medical database containing a comprehensive list of health conditions affecting infants, children, and adolescents.
Pediatric disorders include a wide range of conditions such as developmental disorders, genetic conditions, infections, and chronic illnesses specific to childhood. This dataset provides organised information to support pediatric research, healthcare analytics, and application development.
Each record includes detailed clinical information such as disorder descriptions, affected body systems, common symptoms, severity levels, and treatment approaches.
The dataset has been cleaned and structured for easy integration into spreadsheets, databases, and analytical tools.
It is ideal for pediatricians, healthcare developers, researchers, educators, and data scientists working with child health data.
Dataset Contents
The dataset includes fields such as:
- Disorder Name
- Description
- Affected System
- Common Symptoms
- Severity Level
- Disorder Category
- Age Group (Infant, Child, Adolescent)
- Treatment / Management
Example Conditions Included
- Autism Spectrum Disorder
- Attention Deficit Hyperactivity Disorder (ADHD)
- Pediatric Asthma
- Congenital Heart Defects
- Cerebral Palsy
- Down Syndrome
- Bronchiolitis
- Childhood Diabetes
- Epilepsy in Children
- Growth Disorders
...and many more pediatric conditions.
Data Preview
17 columns
25 rows shown
| ID | Disease Name | Category | Prevalence | Inheritance Pattern | Affected Gene(s) | Chromosome Location | Key Symptoms | Typical Age of Onset | Diagnosis Methods | Available Treatments | Orphan Drug Designation | ICD-10 Code | OMIM Number | Affected System(s) | Disease Severity | Life Expectancy Impact | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Prematurity / Preterm Birth | Neonatal/Newborn | ~10% of live births in US (~1 in 10); extremely preterm <28 wks ~0.7% | Acquired/Multifactorial | N/A | N/A | Birth before 37 completed weeks gestation; respiratory distress, hypothermia, feeding difficulty, apnea of prematurity, immature organ systems | Prenatal/At birth | Gestational age assessment (LMP, early US, Ballard score), birth weight, clinical exam | Antenatal corticosteroids (betamethasone), magnesium sulfate for neuroprotection, NICU thermoregulation, surfactant, respiratory support, parenteral nutrition | No | P07.30 | N/A | Multisystem (respiratory, CNS, GI, immune) | Variable | Variable — extremely preterm have significant mortality and morbidity risk |
| 2 | 2 | Respiratory Distress Syndrome of Newborn | Neonatal/Newborn | ~24,000 US cases/year; ~50% of infants 26-28 wks, >90% <28 wks | Acquired/Multifactorial | SFTPB, SFTPC, ABCA3 (rare hereditary forms) | 2p11.2 (SFTPB); 8p21.3 (SFTPC); 16p13.3 (ABCA3) | Tachypnea, grunting, nasal flaring, intercostal/subcostal retractions, cyanosis, ground-glass CXR with air bronchograms | Birth to first hours of life | Clinical presentation, chest radiograph (reticulogranular pattern), blood gases, lecithin/sphingomyelin ratio | Exogenous surfactant (poractant alfa, beractant, calfactant), CPAP, mechanical ventilation, oxygen, antenatal steroids | No | P22.0 | 267450 | Respiratory | Severe | Significant if untreated; excellent with modern surfactant therapy |
| 3 | 3 | Transient Tachypnea of the Newborn | Neonatal/Newborn | ~5.7 per 1000 term births; higher after elective cesarean | Acquired/Multifactorial | N/A | N/A | Tachypnea >60/min within 2 hours of birth, mild retractions, nasal flaring, mild cyanosis, self-limited course | First hours of life | Clinical diagnosis of exclusion, CXR (perihilar streaking, fluid in fissures, hyperinflation) | Supportive care, supplemental oxygen, CPAP if needed, monitoring; usually resolves in 24-72 hours | No | P22.1 | N/A | Respiratory | Mild | None — self-limited, excellent prognosis |
| 4 | 4 | Meconium Aspiration Syndrome | Neonatal/Newborn | ~2-9% of meconium-stained amniotic fluid deliveries; declining incidence | Acquired/Multifactorial | N/A | N/A | Respiratory distress, cyanosis, barrel chest, rales/rhonchi, meconium-stained skin/nails, persistent pulmonary hypertension | Birth/First hours of life | Clinical history of meconium-stained fluid, CXR (patchy infiltrates, hyperinflation), hypoxemia, echocardiogram | Endotracheal suctioning if non-vigorous, oxygen, mechanical ventilation, surfactant lavage, iNO, ECMO in severe cases | No | P24.01 | N/A | Respiratory | Severe | Variable — mortality 4-12% in severe disease |
| 5 | 5 | Neonatal Hypoxic-Ischemic Encephalopathy (severe) | Neonatal/Newborn | ~1-8 per 1000 live births in developed countries | Acquired/Multifactorial | N/A | N/A | Severe: coma, flaccid tone, absent primitive reflexes, prolonged seizures, decerebrate posturing, multiorgan dysfunction | At birth | Apgar scores, cord gas (pH <7.0, BE <-12), Sarnat staging, EEG, brain MRI, aEEG | Therapeutic hypothermia (33.5°C for 72h) within 6h of birth, seizure control, supportive care, ventilation | No | P91.63 | N/A | Central nervous system (multisystem) | Critical | Severe — high mortality and severe neurodevelopmental disability in survivors |
| 6 | 6 | Neonatal Sepsis (Early-Onset) | Neonatal/Newborn | ~0.5-1.2 per 1000 live births in term infants; higher in preterm | Acquired/Multifactorial | N/A | N/A | Temperature instability, tachypnea, apnea, poor feeding, lethargy, hypotension, hypoglycemia, petechiae, shock | <72 hours of life | Blood culture, CBC with differential, CRP, procalcitonin, lumbar puncture, urine culture, CXR | Empiric IV ampicillin plus gentamicin, tailored antibiotics by culture, supportive care, fluids, pressors | No | P36.9 | N/A | Multisystem (hematologic, immune) | Critical | Significant — mortality 10-20% despite treatment |
| 7 | 7 | Neonatal Jaundice (Physiologic Hyperbilirubinemia) | Neonatal/Newborn | ~60% of term, 80% of preterm newborns | Acquired/Multifactorial | N/A | N/A | Yellowish discoloration of skin and sclerae, cephalocaudal progression, peaks day 3-5 of life | 2-5 days of life | Total serum bilirubin, transcutaneous bilirubinometer, Coombs test, blood type/Rh, nomogram plotting | Phototherapy, adequate hydration/feeding, exchange transfusion if severe, IVIG for hemolytic causes | No | P59.9 | N/A | Hepatobiliary | Mild | None — self-limited, benign course |
| 8 | 8 | Kernicterus (Bilirubin Encephalopathy) | Neonatal/Newborn | ~1 in 100,000 US live births (rare post-phototherapy era) | Acquired/Multifactorial | N/A | N/A | Lethargy, hypotonia, poor feeding, high-pitched cry, arched back (opisthotonus), seizures, athetoid cerebral palsy, hearing loss, gaze abnormalities | First days to weeks of life | Total/unconjugated bilirubin >25-30 mg/dL, brain MRI (globus pallidus/STN signal), BAER, clinical features | Emergency exchange transfusion, intensive phototherapy, IVIG, supportive care; prevention is key | No | P57.9 | N/A | Central nervous system | Critical | Permanent neurologic damage — chronic disability |
| 9 | 9 | Necrotizing Enterocolitis | Neonatal/Newborn | ~1-3 per 1000 live births; 5-10% of VLBW infants | Acquired/Multifactorial | N/A | N/A | Feeding intolerance, abdominal distension, bloody stools, bilious vomiting, temperature instability, lethargy, pneumatosis intestinalis on imaging | 2-3 weeks of life (preterm) | Abdominal radiograph (pneumatosis intestinalis, portal venous gas), CBC, blood/stool cultures, Bell staging | Bowel rest (NPO), NG decompression, broad-spectrum antibiotics, TPN, surgical resection for perforation/Stage III | No | P77.9 | N/A | Gastrointestinal | Critical | Significant — mortality 20-30%; long-term strictures, short bowel syndrome |
| 10 | 10 | Neonatal Abstinence Syndrome | Neonatal/Newborn | ~7 per 1000 US hospital births (2020); rising with opioid epidemic | Acquired/Multifactorial | N/A | N/A | Tremors, irritability, high-pitched cry, hypertonia, sneezing, yawning, poor feeding, vomiting, diarrhea, seizures | 24-72 hours after birth (opioid-dependent) | Maternal history, Finnegan/ESC scoring, meconium/umbilical cord toxicology, urine drug screen | Non-pharmacologic (ESC: eat, sleep, console), morphine or methadone, clonidine, phenobarbital adjunct, rooming-in | No | P96.1 | N/A | Central nervous system | Moderate | Generally good with treatment; possible long-term developmental effects |
| 11 | 11 | Retinopathy of Prematurity | Neonatal/Newborn | ~15-30% of infants <1500g BW; severe in ~5-8% | Acquired/Multifactorial | N/A | N/A | Abnormal retinal vascular proliferation, retinal detachment in severe cases; asymptomatic early | 4-10 weeks postnatal (in at-risk preterm) | Dilated indirect ophthalmoscopy screening at 31-33 wks PMA, international classification (zones, stages, plus disease) | Laser photocoagulation, intravitreal anti-VEGF (bevacizumab, ranibizumab), vitrectomy for detachment | No | H35.109 | N/A | Ophthalmologic | Variable | Variable — severe disease can cause blindness |
| 12 | 12 | Bronchopulmonary Dysplasia | Neonatal/Newborn | ~10,000-15,000 US cases/year; ~40% of VLBW infants | Acquired/Multifactorial | N/A | N/A | Oxygen dependence >28 days, tachypnea, retractions, wheezing, poor weight gain, pulmonary hypertension, recurrent infections | Postnatal (defined at 36 wks PMA) | Oxygen requirement criteria at 36 weeks PMA, CXR (hyperinflation, cystic changes), echocardiogram | Supplemental oxygen, diuretics, bronchodilators, inhaled/systemic corticosteroids, caffeine, vitamin A, nutrition | No | P27.1 | N/A | Respiratory | Severe | Variable — increased risk of chronic lung disease, pulmonary hypertension |
| 13 | 13 | Tetralogy of Fallot | Congenital Heart & Birth Defects | ~1 in 2,041 US live births (~1,754/year); 5-7% of CHD | Acquired/Multifactorial | NKX2-5, JAG1, ZFPM2, GATA4, FLT4 (subset) | 5q35.1 (NKX2-5); 20p12.2 (JAG1); 8q23.1 (ZFPM2) | Cyanosis, hypercyanotic ("tet") spells, exertional dyspnea, clubbing, systolic ejection murmur, boot-shaped heart on CXR | Birth to infancy | Echocardiography, chest X-ray, ECG, cardiac catheterization, cardiac MRI, prenatal ultrasound | Prostaglandin E1 (neonatal), beta-blockers for tet spells, complete surgical repair (4-6 mo), Blalock-Taussig shunt | No | Q21.3 | 187500 | Cardiovascular | Severe | Good with surgical repair; 30-year survival >90% |
| 14 | 14 | Transposition of the Great Arteries (d-TGA) | Congenital Heart & Birth Defects | ~1 in 3,500-5,000 live births; 5-7% of CHD | Acquired/Multifactorial | GDF1, CFC1, THRAP2 (rare) | 19p13.11 (GDF1); 2q21.1 (CFC1) | Profound cyanosis within hours of birth, tachypnea, single loud S2, progressive hypoxemia without murmur, acidosis | Birth (hours of life) | Prenatal or postnatal echocardiography, hyperoxia test failure, CXR (egg-on-a-string), cardiac catheterization | Prostaglandin E1, balloon atrial septostomy (Rashkind), arterial switch operation (Jatene) within first 2 weeks | No | Q20.3 | 608808 | Cardiovascular | Critical | Critical untreated; excellent with arterial switch (>95% survival) |
| 15 | 15 | Hypoplastic Left Heart Syndrome | Congenital Heart & Birth Defects | ~1 in 3,841 US live births; 1-3.8% of CHD | Acquired/Multifactorial | GJA1, NKX2-5, NOTCH1 (subset) | 6q22.31 (GJA1); 5q35.1 (NKX2-5); 9q34.3 (NOTCH1) | Cyanosis, tachypnea, poor peripheral pulses, shock after ductal closure, gray/mottled skin, metabolic acidosis | Birth to first days of life | Prenatal ultrasound, postnatal echocardiography, pulse oximetry screening, cardiac catheterization | Prostaglandin E1, staged surgery (Norwood, Glenn, Fontan), heart transplantation | No | Q23.4 | 241550 | Cardiovascular | Critical | Critical — 5-year survival ~70% with staged palliation |
| 16 | 16 | Ventricular Septal Defect | Congenital Heart & Birth Defects | ~42 per 10,000 live births (most common CHD) | Acquired/Multifactorial | GATA4, NKX2-5, TBX5 (subset) | 8p23.1 (GATA4); 5q35.1 (NKX2-5); 12q24.21 (TBX5) | Holosystolic murmur at LLSB, poor feeding, tachypnea, failure to thrive, sweating; many asymptomatic and small VSDs close spontaneously | Birth to infancy | Echocardiography with color Doppler, ECG, chest X-ray, cardiac MRI | Observation for small VSDs, diuretics, ACE inhibitors, surgical or percutaneous closure for hemodynamically significant lesions | No | Q21.0 | 614429 | Cardiovascular | Variable | Excellent — many close spontaneously; good surgical outcomes |
| 17 | 17 | Atrial Septal Defect (Secundum) | Congenital Heart & Birth Defects | ~1 in 1,500 live births; 6-10% of CHD; secundum is ~75% of ASDs | Acquired/Multifactorial | GATA4, NKX2-5, TBX5, MYH6 | 8p23.1 (GATA4); 5q35.1 (NKX2-5); 12q24.21 (TBX5); 14q11.2 (MYH6) | Often asymptomatic in childhood; fixed split S2, systolic ejection murmur, exercise intolerance, atrial arrhythmias in adults | Childhood to adulthood | Echocardiography (TTE/TEE), ECG (RBBB, right axis), chest X-ray, cardiac catheterization | Observation, percutaneous device closure (Amplatzer), surgical closure for large defects | No | Q21.11 | 108800 | Cardiovascular | Mild | Minimal with closure; pulmonary HTN if untreated large defects |
| 18 | 18 | Patent Ductus Arteriosus | Congenital Heart & Birth Defects | ~1 in 2,000 term births; ~30% of VLBW preterm infants | Acquired/Multifactorial | TFAP2B (Char syndrome); MYH11 | 6p12.3 (TFAP2B); 16p13.11 (MYH11) | Continuous "machinery" murmur, bounding pulses, wide pulse pressure, tachycardia, respiratory distress, failure to thrive | Birth to infancy | Echocardiography with Doppler, chest X-ray, ECG, clinical exam | Indomethacin, ibuprofen, acetaminophen (preterm), percutaneous device closure, surgical ligation | No | Q25.0 | 607411 | Cardiovascular | Moderate | Excellent with closure |
| 19 | 19 | Coarctation of the Aorta | Congenital Heart & Birth Defects | ~4 per 10,000 live births; 4-6% of CHD | Acquired/Multifactorial | NOTCH1, MCTP2 (subset); common in Turner syndrome | 9q34.3 (NOTCH1); 15q26.2 (MCTP2) | Differential upper/lower extremity BP and pulses, cold feet, leg claudication, heart failure in infants, hypertension, systolic murmur | Birth to adulthood | Four-limb BP measurement, echocardiography, CT/MR angiography, cardiac catheterization | Prostaglandin E1 in neonates, balloon angioplasty, stenting, surgical repair (end-to-end anastomosis, subclavian flap) | No | Q25.1 | 120000 | Cardiovascular | Severe | Good with repair; residual hypertension risk |
| 20 | 20 | Spina Bifida (Lumbar Myelomeningocele with Hydrocephalus) | Congenital Heart & Birth Defects | ~3.17 per 10,000 US live births for spina bifida | Acquired/Multifactorial | MTHFR, VANGL1, VANGL2 (folate metabolism, PCP pathway) | 1p36.22 (MTHFR); 1p13.1 (VANGL1); 1q23.2 (VANGL2) | Open lumbar lesion at birth, lower limb paralysis, bowel/bladder dysfunction, hydrocephalus, Chiari II malformation | Congenital (prenatal) | Prenatal ultrasound, maternal AFP, amniocentesis, fetal MRI, postnatal physical exam | Prenatal or postnatal surgical closure (within 24-48h), VP shunt for hydrocephalus, urologic/orthopedic management, folate prevention | No | Q05.2 | 182940 | Central nervous system (multisystem) | Severe | Significant — improved with modern care; lifelong disability |
| 21 | 21 | Cleft Lip with Cleft Palate (Bilateral) | Congenital Heart & Birth Defects | ~1 in 1,600 US live births for cleft lip +/- palate | Acquired/Multifactorial | IRF6, MSX1, FGFR1, TP63 (subset syndromic) | 1q32.2 (IRF6); 4p16.2 (MSX1); 8p11.23 (FGFR1) | Bilateral cleft of upper lip and palate, feeding difficulty, nasal regurgitation, speech delay, recurrent otitis media, dental anomalies | Congenital (prenatal) | Prenatal ultrasound (2nd trimester), physical examination at birth, genetic evaluation | Specialized feeders, NAM (nasoalveolar molding), staged surgical repair (cheiloplasty 3-6 mo, palatoplasty 9-18 mo), speech therapy, orthodontics | No | Q37.8 | 119530 | Craniofacial/Head and neck | Moderate | Normal with multidisciplinary treatment |
| 22 | 22 | Congenital Diaphragmatic Hernia (Bochdalek) | Congenital Heart & Birth Defects | ~1.3-2.3 per 10,000 live births; Bochdalek ~85% of CDH | Acquired/Multifactorial | GATA4, ZFPM2, NR2F2, WT1, LRP2 (subset) | 8p23.1 (GATA4); 8q23.1 (ZFPM2); 15q26.2 (NR2F2) | Severe respiratory distress at birth, scaphoid abdomen, bowel sounds in chest, cyanosis, persistent pulmonary hypertension | Birth (prenatal diagnosis common) | Prenatal ultrasound, fetal MRI (lung-to-head ratio), chest X-ray (bowel in thorax), echocardiography | Gentle ventilation, permissive hypercapnia, iNO, ECMO, delayed surgical repair after stabilization | No | Q79.0 | 142340 | Respiratory (multisystem) | Critical | Significant — survival 70-90% depending on severity and lung hypoplasia |
| 23 | 23 | Gastroschisis | Congenital Heart & Birth Defects | ~4.3 per 10,000 US live births (rising); ~1 in 2,000-3,000 | Acquired/Multifactorial | N/A (largely sporadic; young maternal age association) | N/A | Uncovered loops of bowel protruding through paraumbilical (usually right) abdominal wall defect, no sac, bowel wall thickening/edema | Congenital (prenatal diagnosis) | Prenatal ultrasound, elevated maternal AFP, serial ultrasounds to monitor bowel | Delivery at specialized center, bowel coverage, silo placement with gradual reduction, primary or staged surgical closure, TPN | No | Q79.3 | 230750 | Gastrointestinal | Severe | Good — survival >90% with modern surgical care |
| 24 | 24 | Omphalocele | Congenital Heart & Birth Defects | ~2.5 per 10,000 live births | Acquired/Multifactorial | Associated with Beckwith-Wiedemann (CDKN1C, H19, KCNQ1OT1); trisomies | 11p15.5 (imprinting center) | Midline abdominal wall defect with herniated viscera covered by peritoneal membrane, umbilical cord insertion into sac, high association with other anomalies | Congenital (prenatal diagnosis) | Prenatal ultrasound, maternal AFP, karyotype/microarray, echocardiogram (other anomalies) | Sac protection, staged silo reduction or primary surgical closure, evaluation for associated anomalies | No | Q79.2 | 164750 | Gastrointestinal | Severe | Variable — depends on size and associated anomalies |
| 25 | 25 | Down Syndrome (Trisomy 21) | Genetic Syndromes | ~1 in 700 US live births (~6,000/year) | Chromosomal (trisomy 21) | Extra chromosome 21 (DSCR genes including DYRK1A, DSCAM, APP) | 21q22.13 (DSCR) | Hypotonia, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, single palmar crease, intellectual disability, congenital heart defects (AVSD), duodenal atresia | Congenital (prenatal/birth) | Prenatal screening (cell-free DNA, NT, serum markers), amniocentesis/CVS karyotype, postnatal karyotype/FISH | Multidisciplinary care, cardiac surgery for CHD, early intervention, thyroid/hearing/vision screening, AAP health supervision guidelines | No | Q90.9 | 190685 | Multisystem | Moderate | Moderate — median life expectancy ~60 years |
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