Congenital hypoplasia of ulna and intellectual disability syndrome

disorder

SNOMED 719842006CUI C4304398

Overview

Congenital hypoplasia of ulna and 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.

Absent toenails (anonychia)

Very frequent (80-99%)HP:0001802

Anonychia of fingernails

Very frequent (80-99%)HP:0001817

Delayed closure of the fontanelles

Very frequent (80-99%)HP:0000270

Dull intelligence

Very frequent (80-99%)HP:0001249

Hypoplasia of the ulna

Very frequent (80-99%)HP:0003022

Intoe

Very frequent (80-99%)HP:0001840

Large bregma sutures

Very frequent (80-99%)HP:0000239

Mesomelia

Very frequent (80-99%)HP:0003027

Micromelia

Very frequent (80-99%)HP:0002983

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Radial ray hypoplasia

Very frequent (80-99%)HP:0002984

Radiohumeral dislocation

Very frequent (80-99%)HP:0003042

Short stature, severe

Very frequent (80-99%)HP:0003510

Specific learning disability

Very frequent (80-99%)HP:0001328

Stiff joint

Very frequent (80-99%)HP:0001387

Talipes foot deformities

Very frequent (80-99%)HP:0001883

Ulnar Drift

Very frequent (80-99%)HP:0009465

Broad bone of big toe

Frequent (30-79%)HP:0010059

Broad thumbs

Frequent (30-79%)HP:0011304

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital hypoplasia of ulna(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Mesomelic dysplasia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719842006
UMLS CUI: C4304398
Fully Specified Name: Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.