Microcephaly, seizure, intellectual disability, heart disease syndrome

disorder

SNOMED 723304001CUI C4509817

Overview

Microcephaly, seizure, intellectual disability, heart disease 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.

Atria septal defect

Very frequent (80-99%)HP:0001631

Congenital hypothyroidism

Very frequent (80-99%)HP:0000851

Congenital nystagmus

Very frequent (80-99%)HP:0006934

Hypotonia, early

Very frequent (80-99%)HP:0008947

Mental deficiency

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Seizures

Very frequent (80-99%)HP:0001250

Short penis

Very frequent (80-99%)HP:0000054

Accessory nipples

Frequent (30-79%)HP:0002558

Broad ribs

Frequent (30-79%)HP:0000885

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Esotropia

Frequent (30-79%)HP:0000565

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Laboured breathing

Frequent (30-79%)HP:0002098

Palpebronasal fold

Frequent (30-79%)HP:0000286

PDA

Frequent (30-79%)HP:0001643

Pectus deformities

Frequent (30-79%)HP:0000766

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Pulmonary artery hypertension

Frequent (30-79%)HP:0002092

Redundant neck skin

Frequent (30-79%)HP:0005989

Rib anomalies

Frequent (30-79%)HP:0000772

Short ribs

Frequent (30-79%)HP:0000773

VSD

Frequent (30-79%)HP:0001629

Related Conditions

Congenital heart disease(parent)

Multiple system malformation syndrome(parent)

Seizure disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723304001
UMLS CUI: C4509817
Fully Specified Name: Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.