Macrocephaly, intellectual disability, autism syndrome

disorder

SNOMED 783089006CUI C5190809

Overview

Macrocephaly, intellectual disability, autism 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.

ASD

Very frequent (80-99%)HP:0000729

Large head

Very frequent (80-99%)HP:0000256

Delayed language development

Frequent (30-79%)HP:0000750

No development of motor milestones

Frequent (30-79%)HP:0001270

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Central hypotonia

Occasional (5-29%)HP:0001252

Concave bridge of nose

Occasional (5-29%)HP:0005280

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Gastrointestinal polyps

Occasional (5-29%)HP:0200008

Lipomas

Occasional (5-29%)HP:0001012

Multiple pigmented nevi

Occasional (5-29%)HP:0001054

Penile freckling

Occasional (5-29%)HP:0031447

Childhood attention deficit/hyperactivity disorder

Very rare (1-4%)HP:0007018

Decreased projection of midface

Very rare (1-4%)HP:0011800

Epilepsy

Very rare (1-4%)HP:0001250

Fatty liver

Very rare (1-4%)HP:0001397

Frontal protuberance

Very rare (1-4%)HP:0002007

Hurthle cell thyroid adenoma

Very rare (1-4%)HP:0006781

Increased distance between eyes

Very rare (1-4%)HP:0000316

Lymphoid nodular hyperplasia

Very rare (1-4%)HP:0032203

Polydactyly of the foot

Very rare (1-4%)HP:0001829

Preaxial hand polydactyly

Very rare (1-4%)HP:0001177

Small nose

Very rare (1-4%)HP:0003196

Thyroid carcinoma

Very rare (1-4%)HP:0002890

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

Pervasive developmental disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 783089006
UMLS CUI: C5190809
Fully Specified Name: Macrocephaly, intellectual disability, autism 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.