Skeletal dysplasia with intellectual disability syndrome

disorder

SNOMED 722478008CUI C1839729

Overview

Skeletal dysplasia with intellectual disability 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.

Abducens nerve paralysis

Always present (100%)HP:0006897

Abnormality of the sacrum

Very frequent (80-99%)HP:0005107

Brachydactyly

Very frequent (80-99%)HP:0001156

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased body height

Very frequent (80-99%)HP:0004322

Fused neck

Very frequent (80-99%)HP:0002949

Short middle phalanx of finger

Very frequent (80-99%)HP:0005819

Thoracic hemivertebrae

Very frequent (80-99%)HP:0008467

NIDDM

Frequent (30-79%)HP:0005978

Absent anus

Occasional (5-29%)HP:0002023

Dull intelligence

HP:0001249

Glucose intolerance

HP:0001952

Increased width of bridge of nose

HP:0000431

Prominent frontal suture

HP:0005487

Skeletal dysplasia

HP:0002652

Related Conditions

Spondylodysplastic group(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722478008
UMLS CUI: C1839729
Fully Specified Name: Skeletal dysplasia with intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.