Lethal congenital contracture syndrome type 2

disorder

SNOMED 715419004CUI C1843478

Overview

Lethal congenital contracture syndrome type 2 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.

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

VSD

Occasional (5-29%)HP:0001629

Akinesia

HP:0002304

Arthrogryposis multiplex

HP:0002804

Degenerative vitreoretinopathy

HP:0007964

Edema

HP:0000969

Hydronephrosis

HP:0000126

Hypoplastic mandible condyle

HP:0000347

Increased amniotic fluid index

HP:0001561

Less than 10 fetal movements in 12 hours

HP:0001558

Neurogenic muscle atrophy, especially in the lower limbs

HP:0003202

Respiratory failure

HP:0002878

Severe myopia

HP:0011003

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal muscle(parent)

Amyotrophia(parent)

Inherited arthrogryposis(parent)

Quick Facts

SNOMED CT: 715419004
UMLS CUI: C1843478
Fully Specified Name: Lethal congenital contracture syndrome type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.