Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Killian-Teschler-Nicola syndrome
Coffin-Siris syndrome
4p partial monosomy syndrome
Occasional (5-29%)
Testicular regression syndrome
Radial aplasia-thrombocytopenia syndrome
Occasional (5-29%)
Deficiency of steroid 17-alpha-hydroxylase
Occasional (5-29%)
Phocomelia Schinzel type
Frequent (30-79%)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Occasional (5-29%)
Wolf Hirschhorn syndrome
Occasional (5-29%)
Congenital pontocerebellar hypoplasia type 7
Occasional (5-29%)
Limb mammary syndrome
Very rare (1-4%)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome
Hypoparathyroidism, deafness, renal disease syndrome
Very rare (1-4%)
Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency
Very frequent (80-99%)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency
Very frequent (80-99%)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
Occasional (5-29%)
Myelin regulatory factor-related cardiac urogenital syndrome
Mayer Rokitansky Küster Hauser syndrome
Very frequent (80-99%)
Partial androgen insensitivity syndrome
Very frequent (80-99%)
Complete androgen insensitivity syndrome
Very frequent (80-99%)
Quick Facts
- SNOMED CT
- 248942000
- UMLS CUI
- C0425913
- Fully Specified Name
- Uterus absent (finding)
- Associated Conditions
- 20
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.