46,XX disorder of sex development with anorectal anomalies syndrome

disorder

SNOMED 733622000CUI C4518078

Overview

46,XX disorder of sex development with anorectal anomalies 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 internal genitalia

Very frequent (80-99%)HP:0000812

Anal atresia

Very frequent (80-99%)HP:0002023

Female pseudohermaphroditism

Very frequent (80-99%)HP:0010458

Hydronephrosis

Frequent (30-79%)HP:0000126

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Oligohydramnios

Frequent (30-79%)HP:0001562

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Ureteral dilatation

Frequent (30-79%)HP:0000072

Urethra issue

Frequent (30-79%)HP:0000795

Abnormal connection between trachea and esophagus

Occasional (5-29%)HP:0002575

Absent/underdeveloped radius

Occasional (5-29%)HP:0006501

Displacement of the external urethral orifice

Occasional (5-29%)HP:0100627

Intestinal malrotation

Occasional (5-29%)HP:0002566

Urogenital sinus anomaly

Occasional (5-29%)HP:0100779

Related Conditions

Pseudohermaphroditism(parent)

Multiple system malformation syndrome(parent)

46,XX disorder of sex development(parent)

Anal atresia(parent)

Quick Facts

SNOMED CT: 733622000
UMLS CUI: C4518078
Fully Specified Name: 46,XX disorder of sex development with anorectal anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.