Pelvic dysplasia, arthrogryposis of lower limbs syndrome

disorder

SNOMED 783140003CUI C2930869

Overview

Pelvic dysplasia, arthrogryposis of lower limbs 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.

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Gait disturbance

Very frequent (80-99%)HP:0001288

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

Slender long bone

Very frequent (80-99%)HP:0003100

Small pelvis

Very frequent (80-99%)HP:0008839

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Grey sclerae

Frequent (30-79%)HP:0000592

Sacrococcygeal pilonidal abnormality

Frequent (30-79%)HP:0010767

Spina bifida occulta

Frequent (30-79%)HP:0003298

Related Conditions

Dysostosis(parent)

Distal arthrogryposis syndrome(parent)

Quick Facts

SNOMED CT: 783140003
UMLS CUI: C2930869
Fully Specified Name: Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.