Aplasia cutis congenita with intestinal lymphangiectasia syndrome

disorder

SNOMED 720500008CUI C4304031

Overview

Aplasia cutis congenita with intestinal lymphangiectasia 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.

Abnormal hair quantity

Very frequent (80-99%)HP:0011362

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Calvarial defect

Very frequent (80-99%)HP:0001362

Onset of lymphedema around puberty

Very frequent (80-99%)HP:0001004

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Curvature of little finger

Frequent (30-79%)HP:0004209

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Hypoproteinemia

Frequent (30-79%)HP:0003075

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Bleeding tendency

Occasional (5-29%)HP:0001892

Blood coagulation disorder

Occasional (5-29%)HP:0001928

Coloboma of choroid

Occasional (5-29%)HP:0000567

Near sighted

Occasional (5-29%)HP:0000545

Related Conditions

Aplasia cutis congenita(parent)

Recessive hereditary disorder (autosomal)(parent)

Intestinal lymphangiectasis(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of lymphatic system(parent)

Congenital anomaly of lymphatic structure of trunk(parent)

Congenital lymphangiectasia(parent)

Congenital anomaly of lower trunk(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720500008
UMLS CUI: C4304031
Fully Specified Name: Aplasia cutis congenita with intestinal lymphangiectasia syndrome (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.