Lethal recessive chondrodysplasia

disorder

SNOMED 719404009CUI C4304745

Overview

Lethal recessive chondrodysplasia 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.

Early bone maturation

Always present (100%)HP:0005616

Flared elbow metaphyses

Always present (100%)HP:0003950

Increased bone density in skeletal bones

Always present (100%)HP:0005789

Low chest circumference

Always present (100%)HP:0000774

Short limbs

Always present (100%)HP:0009826

shortened long tubular bones

Always present (100%)HP:0003026

Hydramnios

Very frequent (80-99%)HP:0001561

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Edema

Frequent (30-79%)HP:0000969

Laboured breathing

Frequent (30-79%)HP:0002098

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Micromelia

Frequent (30-79%)HP:0002983

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Chondrodysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719404009
UMLS CUI: C4304745
Fully Specified Name: Lethal recessive chondrodysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.