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Thumb stiffness, brachydactyly, intellectual disability syndrome

disorder

SNOMED 733117001CUI C2931515

Overview

Thumb stiffness, brachydactyly, 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.

Abnormal metacarpal morphology

Very frequent (80-99%)HP:0005916

Abnormality of the thumbs

Very frequent (80-99%)HP:0001172

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Stiff joint

Very frequent (80-99%)HP:0001387

Type A brachydactyly

Very frequent (80-99%)HP:0009370

Obesity

Frequent (30-79%)HP:0001513

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Brachydactyly(parent)

Congenital anomaly of joint(parent)

Hereditary disorder of musculoskeletal system(parent)

Ankylosis of joint of hand(parent)

Congenital malformation of thumb(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 733117001
UMLS CUI: C2931515
Fully Specified Name: Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.