Laron syndrome with immunodeficiency

Preferred Label : Laron syndrome with immunodeficiency;

ICD-11 definition : Laron syndrome with immunodeficiency is characterized by severe post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations, associated with immunodeficiency haracterized by moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract.;

Details

Origin ID

142511578;

Currated CISMeF NLP mapping
- Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive [OMIM Phenotype]
- Laron syndrome type 2 [MeSH concept]
- Laron syndrome with immunodeficiency [ORDO Disease]
- Laron syndrome with immunodeficiency (disorder) [SNOMED CT concept]
- laron syndrome type 2 [MeSH Supplementary Concept]

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