Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies

Preferred Label : Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies;

Symbol : MURCS;

CISMeF acronym : MURCS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mrkh, type II; Klippel-feil deformity, conductive deafness, and absent vagina; Mayer-rokitansky-kuster-hauser syndrome, type II;

Inheritance : Isolated cases;

Prefixed ID : %601076;

Details

Origin ID

601076;

UMLS CUI

C4305568;

Automatic exact mappings (from CISMeF team)
- mullerian aplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Klippel-Feil deformity, conductive deafness, and absent vagina [MeSH concept]
- MURCS association [ICD-11 Sub-sub category]
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 [ORDO Disease]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Azoospermia [HPO term]
- Bicornuate uterus [HPO term]
- Cerebellar cyst [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Ectopic kidney [HPO term]
- Facial asymmetry [HPO term]
- Hypoplasia of the uterus [HPO term]
- Isolated cases [HPO term]
- Micrognathia [HPO term]
- Renal agenesis [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Sprengel anomaly [HPO term]
- Unilateral renal agenesis [HPO term]
ORDO concept(s)
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Klippel-Feil deformity, conductive deafness, and absent vagina [MeSH concept]
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) [SNOMED CT concept]

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