acrocephalopolydactylous dysplasia

Preferred Label : acrocephalopolydactylous dysplasia;

MeSH note : differentiate from Elejalde disease Neuroectodermal melanolysosomal disease;

MeSH synonym : elejalde syndrome;

Details

Origin ID

C573722;

UMLS CUI

C3495588;

Currated CISMeF NLP mapping
- Acrocephalopolydactylous dysplasia [OMIM Phenotype]
- Acrocephalopolydactyly [ICD-11 More detail]
- Acrocephalopolydactyly [ORDO Disease]
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Acrocephalopolysyndactyly (disorder) [SNOMED CT concept]
- Elejalde neuroectodermal melanolysosomal syndrome [OMIM Phenotype]
- Elejalde syndrome [PASCAL descriptor]
- Elejalde syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
Record concept(s)
- acrocephalopolydactylous dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolydactylous dysplasia [OMIM Phenotype]
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Elejalde neuroectodermal melanolysosomal syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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