Sex reversion, kidney, adrenal and lung dysgenesis syndrome

disorder

SNOMED 723720008CUI C2678492

Overview

Sex reversion, kidney, adrenal and lung dysgenesis 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.

Growth deficiency

Always present (100%)HP:0001510

Intrauterine growth retardation, IUGR

Always present (100%)HP:0001511

Oligohydramnios

Always present (100%)HP:0001562

Poorly developed lungs

Always present (100%)HP:0002089

Renal aplasia

Always present (100%)HP:0000104

Sex reversal

Always present (100%)HP:0012245

Bilateral pulmonary agenesis

Very frequent (80-99%)HP:0005944

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the penis

Frequent (30-79%)HP:0000036

Adrenal gland agenesis

Frequent (30-79%)HP:0011743

Adrenal gland disease

Frequent (30-79%)HP:0000834

Cleft lip

Frequent (30-79%)HP:0410030

Cleft lip, cleft palate

Frequent (30-79%)HP:0000202

Cleft of palate

Frequent (30-79%)HP:0000175

Congenital pulmonary airway malformation

Frequent (30-79%)HP:0010959

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Hypoplastic bladder

Frequent (30-79%)HP:0005343

Hypospadias

Frequent (30-79%)HP:0000047

Low-set ears

Frequent (30-79%)HP:0000369

Malrotation of small bowel

Frequent (30-79%)HP:0004794

Ovotestis

Frequent (30-79%)HP:0012861

Pulmonary artery stenosis

Frequent (30-79%)HP:0004415

Pulmonary stenosis

Frequent (30-79%)HP:0001642

VSD

Frequent (30-79%)HP:0001629

Related Conditions

Congenital anomaly of the kidney(parent)

Congenital anomaly of lung(parent)

Congenital anomaly of adrenal gland(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Gonadal dysgenesis(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hereditary nephropathy(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 723720008
UMLS CUI: C2678492
Fully Specified Name: Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.