Aplasia of fibula co-occurrent with complex brachydactyly

disorder

SNOMED 715474004CUI C1856738

Overview

Aplasia of fibula co-occurrent with complex brachydactyly 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 morphology of the radius

Very frequent (80-99%)HP:0002818

Abnormal morphology of ulna

Very frequent (80-99%)HP:0040071

Abnormal tibia morphology

Very frequent (80-99%)HP:0002992

Abnormality of the hips

Very frequent (80-99%)HP:0003272

Abnormality of the thumbs

Very frequent (80-99%)HP:0001172

Absent fibulae

Very frequent (80-99%)HP:0002990

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased body height

Very frequent (80-99%)HP:0004322

Fusion of wrist bones

Very frequent (80-99%)HP:0005048

Hypoplastic/aplastic fibulae

Very frequent (80-99%)HP:0006492

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Micromelia

Very frequent (80-99%)HP:0002983

Pinched bridge of nose

Very frequent (80-99%)HP:0000446

Tarsal bone synostosis

Very frequent (80-99%)HP:0008368

Aplasia of toe

Frequent (30-79%)HP:0010760

Deformed ankle bones

Frequent (30-79%)HP:0008119

Dislocated patellae

Frequent (30-79%)HP:0002999

Finger pointing in a different direction than usual

Frequent (30-79%)HP:0004097

Incorrect alignment of wrist bone

Frequent (30-79%)HP:0006092

Phalangeal hypoplasia

Frequent (30-79%)HP:0009803

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Short long bone of foot

Frequent (30-79%)HP:0010743

Shortened long bones of hand

Frequent (30-79%)HP:0010049

Small nail

Frequent (30-79%)HP:0001792

Talipes equinovalgus

Frequent (30-79%)HP:0001772

Aplastic/hypoplastic toenails

HP:0010624

Short fibula

HP:0003038

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Aplasia of fibula(parent)

Quick Facts

SNOMED CT: 715474004
UMLS CUI: C1856738
Fully Specified Name: Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.