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Mayer-Rokitansky-Küster-Hauser syndrome type 2
disorderSNOMED 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
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.