46,XX disorder of sex development with skeletal anomalies syndrome

disorder

SNOMED 733621007CUI C4518077

Overview

46,XX disorder of sex development with skeletal 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.

Ambiguous genitalia, female

Always present (100%)HP:0000061

Decreased projection of mandible

Always present (100%)HP:0000347

Deformed humerus

Always present (100%)HP:0003871

Fused labia minora

Always present (100%)HP:0000063

Hypoplasia of the premaxilla

Always present (100%)HP:0010650

Increased size of the clitoris

Always present (100%)HP:0040253

Primary amenorrhea

Always present (100%)HP:0000786

Radial head dislocation

Always present (100%)HP:0003083

Small condylar head of mandible

Always present (100%)HP:0007628

Related Conditions

Congenital anomaly of skeletal bone(parent)

Ambiguous genitalia(parent)

Pseudohermaphroditism(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

46,XX disorder of sex development(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 733621007
UMLS CUI: C4518077
Fully Specified Name: 46,XX disorder of sex development with skeletal anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.