Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

disorder

SNOMED 773584001CUI C4751007

Overview

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 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.

Cerebellar abnormality

Always present (100%)HP:0001317

Muscular dystrophy

Always present (100%)HP:0003560

Retinal dysgenesis

Always present (100%)HP:0007973

Anterior segment mesencyhmal dysgenesis

Very frequent (80-99%)HP:0007700

Cleft lip, cleft palate

Very frequent (80-99%)HP:0000202

Cobblestone lissencephaly

Very frequent (80-99%)HP:0007260

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Abnormality of the reproductive system

Frequent (30-79%)HP:0000078

Large skull present at birth

Frequent (30-79%)HP:0004488

Cataract, congenital

Occasional (5-29%)HP:0000519

Nanophthalmos

Occasional (5-29%)HP:0000568

Posterior encephalocele

Occasional (5-29%)HP:0002085

Notched pupil

Very rare (1-4%)HP:0000589

Related Conditions

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Congenital hyperplasia of muscle(parent)

Congenital hepatomegaly(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 773584001
UMLS CUI: C4751007
Fully Specified Name: Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.