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Hereditary hollow viscus myopathy

disorder
SNOMED 63684002CUI C0266833

Overview

Hereditary hollow viscus myopathy 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.

Megacystis
Very frequent (80-99%)HP:0000021
Ureteral dilatation
Very frequent (80-99%)HP:0000072
VUR
Very frequent (80-99%)HP:0000076
Abdominal swelling
Frequent (30-79%)HP:0003270
Absent/small abdominal wall muscles
Frequent (30-79%)HP:0010318
Abdominal situs inversus
Occasional (5-29%)HP:0003363
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Anonychia
Occasional (5-29%)HP:0001798
Arachnodactyly
Occasional (5-29%)HP:0001166
Cleft of palate
Occasional (5-29%)HP:0000175
Decreased size of cranium
Occasional (5-29%)HP:0000252
Hyperparathyroidism
Occasional (5-29%)HP:0000843
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Increased width of the forehead
Occasional (5-29%)HP:0000337
Low chest circumference
Occasional (5-29%)HP:0000774
Nostrils anteverted
Occasional (5-29%)HP:0000463
Posteriorly angulated ears
Occasional (5-29%)HP:0000358
Prominent nasal root
Occasional (5-29%)HP:0000426
Proximal interphalangeal finger joint contractures
Occasional (5-29%)HP:0100490
Round facies
Occasional (5-29%)HP:0000311
Stiff joint
Occasional (5-29%)HP:0001387
Umbilical hernia
Occasional (5-29%)HP:0001537

Quick Facts

SNOMED CT
63684002
UMLS CUI
C0266833
Fully Specified Name
Hereditary hollow viscus myopathy (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
23
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.