Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

disorder

SNOMED 765761009CUI C4707567

Overview

Brachydactyly, mesomelia, intellectual disability, heart defect 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.

Abnormal mitral valve morphology

Very frequent (80-99%)HP:0001633

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Abnormality of the shoulder

Very frequent (80-99%)HP:0003043

Brachydactyly

Very frequent (80-99%)HP:0001156

Cognitive deficits

Very frequent (80-99%)HP:0100543

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Dental agenesis

Very frequent (80-99%)HP:0009804

Hernia of the abdominal wall

Very frequent (80-99%)HP:0004299

Hooked nose

Very frequent (80-99%)HP:0000444

Long rib cage

Very frequent (80-99%)HP:0100818

Mesomelia

Very frequent (80-99%)HP:0003027

Related Conditions

Congenital anomaly of cardiovascular system(parent)

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

Brachydactyly(parent)

Mesomelic dysplasia of upper limb(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 765761009
UMLS CUI: C4707567
Fully Specified Name: Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.