elejalde disease

Preferred Label : elejalde disease;

MeSH note : differentiate from Elejalde syndrome Acrocephalopolydactylous dysplasia;

CISMeF synonym : elejalde syndrome;

MeSH synonym : neuroectodermal melanolysosomal disease; melanolysosomal neurocutaneous syndrome; neuro-ectodermal melanolysosomal syndrome;

Details

Origin ID

C536203;

UMLS CUI

C1860157;

Currated CISMeF NLP mapping
- Acrocephalopolydactylous dysplasia [OMIM Phenotype]
- Acrocephalopolydactyly [ICD-11 More detail]
- Acrocephalopolydactyly [ORDO Disease]
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Elejalde neuroectodermal melanolysosomal syndrome [OMIM Phenotype]
- Elejalde syndrome [PASCAL descriptor]
- Elejalde syndrome [Disease (Nov.)]
- Neuroectodermal melanolysosomal disease [ORDO Disease]
- Neuroectodermal melanolysosomal disease [ICD-11 More detail]
- Neuroectodermal melanolysosomal disease (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- neurocutaneous syndromes [MeSH Descriptor]
- pigmentation disorders [MeSH Descriptor]
ORDO relation(s)
- Neuroectodermal melanolysosomal disease [ORDO Disease]
Record concept(s)
- elejalde disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Elejalde neuroectodermal melanolysosomal syndrome [OMIM Phenotype]
- Neuroectodermal melanolysosomal disease [ORDO Disease]
- Neuroectodermal melanolysosomal disease (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

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