Mayer-Rokitansky-Küster-Hauser syndrome type 2

disorder

SNOMED 717705004CUI C4305568

Overview

Mayer-Rokitansky-Küster-Hauser syndrome type 2 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.

Absent/underdeveloped uterus

Very frequent (80-99%)HP:0008684

Azoospermia

Very frequent (80-99%)HP:0000027

Decreased body height

Very frequent (80-99%)HP:0004322

Ectopic kidney

Very frequent (80-99%)HP:0000086

Heart shaped uterus

Very frequent (80-99%)HP:0000813

Low posterior hair line

Very frequent (80-99%)HP:0002162

Renal adysplasia

Very frequent (80-99%)HP:0000110

Renal aplasia

Very frequent (80-99%)HP:0000104

Short neck

Very frequent (80-99%)HP:0000470

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Rib anomalies

Frequent (30-79%)HP:0000772

Hearing impairment

Occasional (5-29%)HP:0000365

Abnormality of the backbone

HP:0000925

Cerebellar cysts

HP:0002350

Cleft of palate

HP:0000175

Cleft of upper lip

HP:0000204

Decreased projection of mandible

HP:0000347

Hearing loss, conductive

HP:0000405

Single kidney

HP:0000122

Sprengel deformity

HP:0000912

Unbalanced face

HP:0000324

Underdeveloped uterus

HP:0000013

Related Conditions

Mayer Rokitansky Küster Hauser syndrome(parent)

Quick Facts

SNOMED CT: 717705004
UMLS CUI: C4305568
Fully Specified Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.