Klippel-Feil deformity, conductive deafness, and absent vagina

Preferred Label : Klippel-Feil deformity, conductive deafness, and absent vagina;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0575875;

UMLS CUI

C1832817;

Currated CISMeF NLP mapping
- MURCS association [ICD-11 Sub-sub category]
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 [ORDO Disease]
- Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [OMIM Phenotype]
Related record
- mullerian aplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 [ORDO Disease]
- Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies [OMIM Phenotype]