Metaphyseal dysostosis - intellectual deficit - conductive deafness

Preferred Label : Metaphyseal dysostosis - intellectual deficit - conductive deafness;

ICD-11 definition : Metaphyseal dysostosis - intellectual deficit - conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood.;

Details

Origin ID

1109968622;

UMLS CUI

C1855175;

Currated CISMeF NLP mapping
- Metaphyseal dysostosis, impaired intellectual development, and conductive deafness [OMIM Phenotype]
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) [SNOMED CT concept]
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH concept]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysostosis, impaired intellectual development, and conductive deafness [OMIM Phenotype]
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH concept]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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