PFFD - Proximal femoral focal deficiency

disorder

SNOMED 205211001CUI C0431996

Overview

PFFD - Proximal femoral focal deficiency 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.

Absent/small thighbone

Very frequent (80-99%)HP:0005613

Absent/underdeveloped head and neck of thighbone

Very frequent (80-99%)HP:0009108

Left and right leg differ in length or width

Very frequent (80-99%)HP:0100559

Short foetal thigh bone length

Very frequent (80-99%)HP:0011428

Limited hip movement

Frequent (30-79%)HP:0008800

Limited knee movement

Frequent (30-79%)HP:0010501

Related Conditions

Longitudinal deficiency of femur(parent)

Disorder of hip(parent)

Congenital anomaly of lower trunk(parent)

Quick Facts

SNOMED CT: 205211001
UMLS CUI: C0431996
Fully Specified Name: Proximal femoral focal deficiency (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.