Aplastic anemia, intellectual disability, dwarfism syndrome

disorder

SNOMED 1332385000CUI C5436906

Overview

Aplastic anemia, intellectual disability, dwarfism 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.

Decreased body height

Always present (100%)HP:0004322

Decreased haemoglobin

Always present (100%)HP:0001903

Low platelet count

Always present (100%)HP:0001873

Poor school performance

Always present (100%)HP:0001249

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Myelodysplasia

Very frequent (80-99%)HP:0002863

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Leukopenia

Frequent (30-79%)HP:0001882

Melanoderma

Frequent (30-79%)HP:0000953

Regression of motor skills

Frequent (30-79%)HP:0033044

Undergrowth

Frequent (30-79%)HP:0001508

Acute myeloid leukaemia

Occasional (5-29%)HP:0004808

Adrenal hypoplasia

Occasional (5-29%)HP:0000835

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Long thumb

Occasional (5-29%)HP:0032524

PLSVC

Occasional (5-29%)HP:0005301

Turridolichocephaly

Occasional (5-29%)HP:0000268

Underdeveloped uterus

Occasional (5-29%)HP:0000013

Facial flushing after alcohol intake

HP:0001033

Hypoplastic bone marrow

HP:0005528

Reduced acetaldehyde dehydrogenase level

HP:0003533

Related Conditions

Congenital microcephalus(parent)

Inherited platelet disorder(parent)

Small stature(parent)

Constitutional aplastic anemia(parent)

Developmental hereditary disorder(parent)

Hereditary white blood cell disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1332385000
UMLS CUI: C5436906
Fully Specified Name: Aplastic anemia, intellectual disability, dwarfism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.