Brachydactyly syndrome type B

disorder

SNOMED 389168002CUI C1300267

Overview

Brachydactyly syndrome type B 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.

Anonychia of fingernails

Very frequent (80-99%)HP:0001817

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

Small feet

Very frequent (80-99%)HP:0001773

Type B brachydactyly

Very frequent (80-99%)HP:0005831

Underdeveloped 2nd-5th middle toe bones

Very frequent (80-99%)HP:0008083

Broad bone of big toe

Occasional (5-29%)HP:0010059

Fusion of wrist bones

Occasional (5-29%)HP:0005048

Partial syndactyly

Occasional (5-29%)HP:0006101

Related Conditions

Coloboma of macula with brachydactyly type B syndrome(child)

Acromesomelic dysplasia syndrome(parent)

Brachydactyly(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 389168002
UMLS CUI: C1300267
Fully Specified Name: Brachydactyly syndrome type B (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.