Kostmann syndrome - CISMeF

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CISMeF

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Kostmann syndromeICD-11 More detail

Preferred Label : Kostmann syndrome;

ICD-11 synonym : Kostmann disease;

Details

Origin ID

421553273;

UMLS CUI

C1853118;

Currated CISMeF NLP mapping
- Congenital neutropenia (disorder) [SNOMED CT concept]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 3, Autosomal Recessive [NCIt concept]
- congenital neutropenia [SNOMED Notion]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Congenital Neutropenia [NCIt concept]
- Congenital agranulocytosis [HPO term]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia [NCIt concept]
- Severe congenital neutropenia [ORDO Disease]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital Neutropenia [NCIt concept]
- Severe Congenital Neutropenia [NCIt concept]

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20/06/2025

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