Compound heterozygous sickling disorders without crisis

ICD-11 code : 3A51.3;

Preferred Label : Compound heterozygous sickling disorders without crisis;

ICD-11 definition : A disease caused by genetic inheritance of two heterozygous recessive alleles of the haemoglobin gene leading to abnormal formation of haemoglobin molecule. This disease is characterised by rigid, sickle shaped red blood cells. Confirmation is by identification of mutations through genetic testing.;

ICD-11 synonym : double heterozygous sickling disorder;

ICD-11 inclusion : sickle-cell beta thalassaemia;

Details

Origin ID

313446364;

UMLS CUI

C0494229;

Currated CISMeF NLP mapping
- Double heterozygous sickling disorder (disorder) [SNOMED CT concept]
- Double heterozygous sickling disorders [MedDRA Preferred Term]
- double heterozygous sickling disorder, nos [SNOMED Notion]
ICD-10 Mapping
- Sickle-cell/Hb-C disease [ICD-10 Sub-category]
See also inter- (CISMeF)
- Sickle cell-hemoglobin C disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Double heterozygous sickling disorder (disorder) [SNOMED CT concept]
- Double heterozygous sickling disorders [MedDRA Preferred Term]
- double heterozygous sickling disorder, nos [SNOMED Notion]

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