Intellectual disability Buenos Aires type

disorder

SNOMED 725906006CUI C0796080

Overview

Intellectual disability Buenos Aires type 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 calvaria morphology

Very frequent (80-99%)HP:0002683

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of pelvic girdle bone morphology

Very frequent (80-99%)HP:0002644

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Bilateral crossbite

Very frequent (80-99%)HP:0000689

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Cuboid-shaped thoracolumbar vertebral bodies

Very frequent (80-99%)HP:0008425

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased width of the skull

Very frequent (80-99%)HP:0004422

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Enlarged mandible

Very frequent (80-99%)HP:0000303

Fine hair

Very frequent (80-99%)HP:0002213

Heart septal defect

Very frequent (80-99%)HP:0001671

High arched palate

Very frequent (80-99%)HP:0000218

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Macrotia

Very frequent (80-99%)HP:0000400

Misshapened teeth

Very frequent (80-99%)HP:0006482

Open bite

Very frequent (80-99%)HP:0010807

Pectus carinatum

Very frequent (80-99%)HP:0000768

Photophobia

Very frequent (80-99%)HP:0000613

Poor school performance

Very frequent (80-99%)HP:0001249

Sloping forehead

Very frequent (80-99%)HP:0000340

Spastic walk

Very frequent (80-99%)HP:0002064

Tightly curved thumb nail

Very frequent (80-99%)HP:0008407

Umbilical hernia

Very frequent (80-99%)HP:0001537

Blepharophimosis

Frequent (30-79%)HP:0000581

Hydronephrosis

Frequent (30-79%)HP:0000126

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 725906006
UMLS CUI: C0796080
Fully Specified Name: Intellectual disability Buenos Aires type (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.