autosomal dominant or sporadic congenital neutropenia

Preferred Label : autosomal dominant or sporadic congenital neutropenia;

MeSH synonym : Congenital Agranulocytosis; Congenital Neutropenia; Severe congenital neutropenia;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0585310;

UMLS CUI

C0340970;

Automatic exact mappings (from CISMeF team)
- Agranulocytosis [ICD-10 category (who)]
- Neutropenia, severe congenital [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Congenital Neutropenia [NCIt concept]
- Congenital neutropenia [PASCAL descriptor]
- Congenital neutropenia [MedDRA LLT]
- Congenital neutropenia (disorder) [SNOMED CT concept]
- Kostmann syndrome [PASCAL descriptor]
- Severe Congenital Neutropenia [NCIt concept]
- Severe congenital neutropaenia [ICD-11 More detail]
- congenital neutropenia [SNOMED Notion]
- obsolete Congenital neutropenia [HPO term]
- severe congenital neutropenia [DO Concept]
Related record
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Neutropenia [NCIt concept]
- Congenital neutropenia [ICD-9 code]
- Congenital neutropenia [MedDRA LLT]
- Congenital neutropenia (disorder) [SNOMED CT concept]
- congenital neutropenia [SNOMED Notion]
- obsolete Congenital neutropenia [HPO term]
- severe congenital neutropenia [DO Concept]
Validated automatic mappings to BTNT
- Autosomal dominant severe congenital neutropaenia [ICD-11 More detail]
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Autosomal dominant severe congenital neutropenia (disorder) [SNOMED CT concept]
- Congenital agranulocytosis [HPO term]
Validated automatic mappings to NTBT
- Constitutional neutropaenia [ICD-11 Sub-sub category]
- congenital neutropenia [Disease (Nov.)]

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