| syndroom van alopecia, anosmie, geleidingsgehoorverlies en hypogonadisme (aandoening) | | syndroom van alopecia, anosmie, geleidingsgehoorverlies en hypogonadisme | | syndroom van Johnson-McMillin
neuro-ectodermaal syndroom van Johnson
syndroom van alopecia, anosmie, conductief gehoorverlies en hypogonadisme
| | Johnson neuroectodermal syndrome | | Alopecia, anosmia, deafness, hypogonadism syndrome
Johnson McMillin syndrome
| | Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. |
| | Id | 721584005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 2316 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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