onychotrichodysplasia and neutropenia

Preferred Label : onychotrichodysplasia and neutropenia;

MeSH synonym : onychotrichodysplasia, chronic neutropenia and mental retardation syndrome;

Details

Origin ID

C537752;

UMLS CUI

C1850316;

CISMeF manual mappings
- Onycho-tricho-dysplasia-neutropenia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Onycho-tricho-dysplasia neutropenia syndrome (disorder) [SNOMED CT concept]
- Onycho-tricho-dysplasia – neutropaenia syndrome [ICD-11 More detail]
- Onychotrichodysplasia and neutropenia [OMIM Phenotype]
MeSH term(s) associated for indexing
- hair [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
- neutropenia [MeSH Descriptor]
Record concept(s)
- Onychotrichodysplasia and neutropenia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Onycho-tricho-dysplasia-neutropenia syndrome [ORDO Disease]
- Onychotrichodysplasia and neutropenia [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients