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Ateleiotic dwarfism

disorder
SNOMED 71003000CUI C0342573

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased serum insulin-like growth factor 1
Always present (100%)HP:0030353
Front fontanelle stays open
Always present (100%)HP:0004474
High forehead
Always present (100%)HP:0000348
Jaundice, neonatal
Always present (100%)HP:0006579
Low blood sugar
Always present (100%)HP:0001943
Poor growth
Always present (100%)HP:0001510
Reduced circulating growth hormone concentration
Always present (100%)HP:0034323
Retruded nasal dorsum
Always present (100%)HP:0000457
Short stature, severe
Always present (100%)HP:0003510

Related Conditions

Quick Facts

SNOMED CT
71003000
UMLS CUI
C0342573
Fully Specified Name
Ateleiotic dwarfism (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
9
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.