Kostmann syndrome
group of diseases that affect myelopoiesis, causing a congenital form of neutropenia
Facts
7 properties- Instance of
- rare disease, class of disease[3]
- Subclass of
- severe congenital neutropenia
- Age of onset
- neonatal onset[7]
- Has phenotype
- sensorineural hearing loss, disability affecting intellectual abilities, Clumsiness, Infantile onset, conductive hearing loss, Impaired vibratory sensation, myelodysplastic syndrome, acute lymphocytic leukemia, childhood onset[8][9][10][11][12][13][14][15][16]
- Health specialty
- hematology[5]
- Prevalence
- +0.000001[4]
🏷️ Also known as
en Kostmann syndrome
ar نقص العدلات الخلقي الشديد
de Kostmann-Syndrom
es Sindrome de Kostmann
es Síndrome de Kostmann
fr neutropénie congénitale sévère autosomique récessive type 3;
fr syndrome de Kostmann
it Sindrome di Kostmann
ja 重症先天性好中球減少症
pl Choroba Kostmanna
sv Kostmanns sjukdom
🔖 Identifiers · 18
- OpenAlex ID
- C2908751872
- DiseasesDB
- 29519
- EMedicine ID
- 887140
- Exact match
- purl.obolibrary.org
- Freebase ID
- /m/07mtjt
- GARD rare disease ID
- 302
- Human Phenotype Ontology ID
- HP:0005541
- ICD-10 ID
- D70
- ICD-9 ID
- 288.01
- MeSH descriptor ID
- C537592
- Medical Dictionary for Regulatory Activities ID
- 10001507
- Microsoft Academic ID (discontinued)
- 2781127384, 2908628129
Show all 18 identifiers +6
- NE.se ID
- kostmanns-sjukdom
- OMIM ID
- 610738
- Orphanet ID
- 99749
- Raras disease ID
- D99749
- UMLS CUI
- C1853118
- WikiProjectMed ID
- Severe congenital neutropenia
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