Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

disorder

SNOMED 412787009CUI C0796094

Overview

Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth 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 palmar dermatoglyphics

Very frequent (80-99%)HP:0001018

Blepharophimosis

Very frequent (80-99%)HP:0000581

Cardiac murmur

Very frequent (80-99%)HP:0030148

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Ear anomalies

Very frequent (80-99%)HP:0000356

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Growth delay as children

Very frequent (80-99%)HP:0008897

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypoplastic teeth

Very frequent (80-99%)HP:0000685

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Microtia

Very frequent (80-99%)HP:0008551

Proteinuria

Very frequent (80-99%)HP:0000093

Recurrent middle ear infection

Very frequent (80-99%)HP:0000403

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Speech difficulties

Very frequent (80-99%)HP:0000750

Tooth hypoplasia

Very frequent (80-99%)HP:0000691

Wandering eye

Very frequent (80-99%)HP:0000646

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Atria septal defect

Frequent (30-79%)HP:0001631

Cleft of palate

Frequent (30-79%)HP:0000175

Multiple bladder diverticula

Frequent (30-79%)HP:0012619

Neonatal asphyxia

Frequent (30-79%)HP:0012768

Abnormality of cardiovascular system morphology

HP:0030680

Curvature of little finger

HP:0004209

Decreased body height

HP:0004322

Decreased projection of mandible

HP:0000347

Related Conditions

Congenital heart disease(parent)

Blepharophimosis, intellectual disability syndrome(parent)

Congenital anomaly of tooth(parent)

Hypoplasia of tooth(parent)

Quick Facts

SNOMED CT: 412787009
UMLS CUI: C0796094
Fully Specified Name: Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (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.