Multicentric carpotarsal osteolysis syndrome

disorder

SNOMED 766992008CUI C2674705

Overview

Multicentric carpotarsal osteolysis 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.

Ankle pain

Always present (100%)HP:0030840

Bilateral elbow dislocations

Always present (100%)HP:0005021

Bilateral kidney degeneration

Always present (100%)HP:0012586

High blood pressure

Always present (100%)HP:0000822

Inability to walk

Always present (100%)HP:0002540

Tarsal bone osteolysis

Always present (100%)HP:0006234

Wrist pain

Always present (100%)HP:0030836

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Abnormality of the wrist

Very frequent (80-99%)HP:0003019

Breakdown of bone

Very frequent (80-99%)HP:0002797

Cachexia

Very frequent (80-99%)HP:0004326

Carpal bone osteolysis

Very frequent (80-99%)HP:0001495

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Gait disturbance

Very frequent (80-99%)HP:0001288

Inverted triangular face

Very frequent (80-99%)HP:0000325

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Metacarpal osteolysis

Very frequent (80-99%)HP:0001504

Prominent globes

Very frequent (80-99%)HP:0000520

Proteinuria

Very frequent (80-99%)HP:0000093

Slender long bone

Very frequent (80-99%)HP:0003100

Wrist swelling

Very frequent (80-99%)HP:0001225

Corneal opacity

Frequent (30-79%)HP:0007957

End-stage renal disease

Frequent (30-79%)HP:0003774

Kidney damage

Frequent (30-79%)HP:0000112

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Renal failure

Frequent (30-79%)HP:0000083

Anomaly of the epiphyses

Occasional (5-29%)HP:0005930

Diaphragmatic hernia

Occasional (5-29%)HP:0000776

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Hydramnios

Occasional (5-29%)HP:0001561

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Idiopathic osteolyses(parent)

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 766992008
UMLS CUI: C2674705
Fully Specified Name: Multicentric carpotarsal osteolysis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.