Deafness-infertility syndrome

Preferred Label : Deafness-infertility syndrome;

ICD-11 definition : Deafness-infertility syndrome is a very rare genetic syndrome associating sensorineural deafness and male infertility related to abnormal spermatozoid morphology and motility.;

ICD-11 synonym : 15q15.3 deletion syndrome; 15q15.3 deletion; Monosomy 15q15.3;

Details

Origin ID

1430704280;

UMLS CUI

C1970187;

Currated CISMeF NLP mapping
- Deafness-infertility syndrome [ORDO Disease]
- Deafness-infertility syndrome [OMIM Phenotype]
- Sensorineural deafness and male infertility (disorder) [SNOMED CT concept]
- deafness, sensorineural, and male infertility [MeSH Supplementary Concept]
- deafness, sensorineural, and male infertility [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-infertility syndrome [OMIM Phenotype]
- Deafness-infertility syndrome [ORDO Disease]
- Sensorineural deafness and male infertility (disorder) [SNOMED CT concept]
- deafness, sensorineural, and male infertility [MeSH concept]
- deafness, sensorineural, and male infertility [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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