Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder

disorder

SNOMED 1187113001CUI C5568800

Overview

Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder 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.

Abnormality of the respiratory system

Very frequent (80-99%)HP:0002086

Dysostosis multiplex

Very frequent (80-99%)HP:0000943

Flexion contractures

Very frequent (80-99%)HP:0001371

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

Proteinuria

Very frequent (80-99%)HP:0000093

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Thrombocytopenia

Very frequent (80-99%)HP:0001873

Atria septal defect

Frequent (30-79%)HP:0001631

Cardiac anomaly

Frequent (30-79%)HP:0001627

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Chronic heart failure

Frequent (30-79%)HP:0001635

Diffusely thickened skin

Frequent (30-79%)HP:0001072

Elevated heart rate

Frequent (30-79%)HP:0001649

Heparan sulphate excretion in urine

Frequent (30-79%)HP:0002159

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to walk

Frequent (30-79%)HP:0002540

Laboured breathing

Frequent (30-79%)HP:0002098

Leukopenia

Frequent (30-79%)HP:0001882

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Low albumin

Frequent (30-79%)HP:0003073

Nephrosis

Frequent (30-79%)HP:0000100

No speech development

Frequent (30-79%)HP:0001344

Optic atrophy

Frequent (30-79%)HP:0000648

PDA

Frequent (30-79%)HP:0001643

Primary pulmonary hypertension

Frequent (30-79%)HP:0002092

Pulmonary obstruction

Frequent (30-79%)HP:0006536

Recurrent gastroenteritis

Frequent (30-79%)HP:0031123

Related Conditions

Congenital heart disease(parent)

Global developmental delay(parent)

Dysostosis multiplex group(parent)

Cardiovascular system hereditary disorder(parent)

Disorder of hematopoietic structure(parent)

Respiratory disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 1187113001
UMLS CUI: C5568800
Fully Specified Name: Mucopolysaccharidosis-like plus disease (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.