Johnson neuroectodermal syndrome

Preferred Label : Johnson neuroectodermal syndrome;

ICD-11 definition : Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.;

Details

Origin ID

1480597785;

Currated CISMeF NLP mapping
- Johnson neuroectodermal syndrome [OMIM Phenotype]
- Johnson neuroectodermal syndrome [ORDO Disease]
- Johnson neuroectodermal syndrome [MeSH concept]
- Johnson neuroectodermal syndrome (disorder) [SNOMED CT concept]
- johnson neuroectodermal syndrome [MeSH Supplementary Concept]

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