Overview
Meckel syndrome type 7 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dandy-Walker cyst
Very frequent (80-99%)HP:0001305
Dysplastic kidneys
Very frequent (80-99%)HP:0000110
Multicystic kidney dysplasia
Very frequent (80-99%)HP:0000003
Abnormal liver parenchyma morphology
Frequent (30-79%)HP:0030146
Abnormality of the pancreas
Frequent (30-79%)HP:0001732
Anomaly of the biliary tract
Frequent (30-79%)HP:0012440
Hydramnios
Frequent (30-79%)HP:0001561
Intestinal malrotation
Frequent (30-79%)HP:0002566
Oligohydramnios
Frequent (30-79%)HP:0001562
Poorly developed lungs
Frequent (30-79%)HP:0002089
Aortic stenosis
Occasional (5-29%)HP:0001650
Atria septal defect
Occasional (5-29%)HP:0001631
Choroid plexus cyst
Occasional (5-29%)HP:0002190
End-stage renal disease
Occasional (5-29%)HP:0003774
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
High forehead
Occasional (5-29%)HP:0000348
Inguinal hernia
Occasional (5-29%)HP:0000023
Large, late-closing fontanelle
Occasional (5-29%)HP:0000239
Multiple glomerular cysts
Occasional (5-29%)HP:0100611
Pancreatic cyst
Occasional (5-29%)HP:0001737
PDA
Occasional (5-29%)HP:0001643
Portal hypertension
Occasional (5-29%)HP:0001409
Posterior polydactyly of foot
Occasional (5-29%)HP:0001830
Primary biliary cirrhosis
Occasional (5-29%)HP:0002613
Right ventricular hypertrophy
Occasional (5-29%)HP:0001667
Situs inversus
Occasional (5-29%)HP:0001696
Slowed or blocked flow of bile from liver
Occasional (5-29%)HP:0001396
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Proliferation of bile canaliculi
HP:0001408
Related Conditions
Digestive system hereditary disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of nervous system(parent)
Congenital hepatic fibrosis(parent)
Congenital anomaly of central nervous system(parent)
Hereditary nephropathy(parent)
Congenital cystic kidney disease(parent)
Multiple system malformation syndrome(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of the kidney(parent)
Quick Facts
- SNOMED CT
- 773737004
- UMLS CUI
- C2673885
- Fully Specified Name
- Nephrocystin 3-related Meckel-like syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.