Neonatal cutis laxa with marfanoid phenotype

disorder

SNOMED 254221009CUI C0432335

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Flexion contractures

Very frequent (80-99%)HP:0001371

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Loose redundant skin

Very frequent (80-99%)HP:0001582

Pulmonary emphysema

Very frequent (80-99%)HP:0002097

Valvular heart disease

Frequent (30-79%)HP:0001654

Abnormality of cardiovascular system morphology

HP:0030680

Arachnodactyly

HP:0001166

Cardiac anomaly

HP:0001627

Diaphragmatic hernia

HP:0000776

Dislocated femoral heads

HP:0002827

Loose skin

HP:0000973

Related Conditions

Inherited cutis laxa(parent)

Quick Facts

SNOMED CT: 254221009
UMLS CUI: C0432335
Fully Specified Name: Neonatal cutis laxa with marfanoid phenotype (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.