Immunodeficiency with short-limbed stature

Preferred Label : Immunodeficiency with short-limbed stature;

Rare : true;

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

D822;

UMLS CUI

C0265299;

Automatic exact mappings (from CISMeF team)
- Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) [SNOMED CT concept]
Excluded by
- Short stature due to endocrine disorder [ICD-10 Sub-category]
Orphanet concepts
- Dursun syndrome [ORDO Disease]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) [SNOMED CT concept]
- lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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