Absence deformity of leg and congenital cataract syndrome

disorder

SNOMED 716099003CUI C4274843

Overview

Absence deformity of leg and congenital cataract 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.

Abnormality of the lower limb

Very frequent (80-99%)HP:0002814

Abnormality of the thighbone

Very frequent (80-99%)HP:0002823

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Hypoplasia involving bones of the lower limbs

Very frequent (80-99%)HP:0009816

Lens opacities

Very frequent (80-99%)HP:0000518

Poor vision

Very frequent (80-99%)HP:0000505

Prominent swayback

Very frequent (80-99%)HP:0003307

Absent anus

Frequent (30-79%)HP:0002023

Related Conditions

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

Congenital cataract(parent)

Congenital anomaly of lower limb(parent)

Quick Facts

SNOMED CT: 716099003
UMLS CUI: C4274843
Fully Specified Name: Absence deformity of leg and congenital cataract syndrome (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.