Mayer-Rokitansky-Kuster-Hauser Syndrome

Preferred Label : Mayer-Rokitansky-Kuster-Hauser Syndrome;

NCIt synonyms : MRKH;

NCIt related terms : MRKH Syndrome; Mullerian Aplasia/Dysgenesis;

NCIt definition : A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects.;

Alternative definition : NICHD: A condition characterized by failure of Müllerian duct development, typically resulting in uterine aplasia and absence or underdevelopment of the vagina, in an otherwise phenotypically normal female individual with a 46,XX karyotype and normal ovarian function. Other organ systems, including the urological, skeletal, cardiac, and otologic may be affected.;

Details

Origin ID

C124853;

UMLS CUI

C0431648;

Currated CISMeF NLP mapping
- Mayer-Rokitansky-Kuster-Hauser syndrome [MedDRA Preferred Term]
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-rokitansky-kuster-hauser syndrome [OMIM Phenotype]
- Mullerian agenesis [ICD-11 More detail]
- Rokitansky Kuster Hauser syndrome [MeSH concept]
- Rokitansky-Kuster-Hauser syndrome [PASCAL descriptor]
- mullerian aplasia [MeSH Supplementary Concept]
- rokitansky sequence [SNOMED Notion]
See also inter- (CISMeF)
- Mullerian aplasia (disorder) [SNOMED CT concept]
- Müllerian aplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mayer-Rokitansky-Kuster-Hauser syndrome [MedDRA Preferred Term]
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 [ORDO Disease]
- Mayer-rokitansky-kuster-hauser syndrome [OMIM Phenotype]
- Rokitansky Kuster Hauser syndrome [MeSH concept]
- Rokitansky sequence [MeSH concept]
- Rokitansky sequence (disorder) [SNOMED CT concept]
- rokitansky sequence [SNOMED Notion]
Validated automatic mappings to BTNT
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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