johnson neuroectodermal syndrome

Preferred Label : johnson neuroectodermal syndrome;

MeSH synonym : Johnson-Mcmillin syndrome; AADH syndrome; alopecia anosmia deafness hypogonadism syndrome; Alopecia-Anosmia-Deafness-Hypogonadism syndrome;

Details

Origin ID

C535882;

UMLS CUI

C0796002;

Currated CISMeF NLP mapping
- Johnson neuroectodermal syndrome [ICD-11 More detail]
- Johnson neuroectodermal syndrome [OMIM Phenotype]
- Johnson neuroectodermal syndrome [ORDO Disease]
- Johnson neuroectodermal syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Conductive deafness [HPO term]
- Microtia [HPO term]
- Mild facial asymmetry [HPO term]
- Multiple truncal cafe-au-lait spots [HPO term]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- deafness [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- neurocutaneous syndromes [MeSH Descriptor]
- olfaction disorders [MeSH Descriptor]
ORDO relation(s)
- Johnson neuroectodermal syndrome [ORDO Disease]
Record concept(s)
- Johnson neuroectodermal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Johnson neuroectodermal syndrome [ORDO Disease]
- Johnson neuroectodermal syndrome [OMIM Phenotype]
- Johnson neuroectodermal syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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