poikiloderma with neutropenia

Preferred Label : poikiloderma with neutropenia;

MeSH synonym : poikiloderma with neutropenia, Clericuzio-Type;

Origin ID

C565820;

UMLS CUI

C1858723;

Automatic exact mappings (from CISMeF team)
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
- U6 snRNA biogenesis phosphodiesterase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Poikiloderma with Neutropenia [NCIt concept]
- Poikiloderma with neutropaenia [ICD-11 More detail]
- Poikiloderma with neutropenia [OMIM Phenotype]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [DO Concept]
DO Cross reference
- poikiloderma with neutropenia [DO Concept]
MeSH term(s) associated for indexing
- neutropenia [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- poikiloderma with neutropenia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Poikiloderma with Neutropenia [NCIt concept]
- Poikiloderma with neutropenia [OMIM Phenotype]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [DO Concept]