hypogammaglobulinemia and isolated growth hormone deficiency, X-linked

Preferred Label : hypogammaglobulinemia and isolated growth hormone deficiency, X-linked;

MeSH synonym : fleisher syndrome; nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia; agammaglobulinemia and isolated growth hormone deficiency, X-linked; isolated growth hormone deficiency, type 3; growth hormone deficiency with hypogammaglobulinemia; isolated growth hormone deficiency, type III;

Details

Origin ID

C537149;

UMLS CUI

C0472813;

Automatic exact mappings (from CISMeF team)
- Immunoglobulinemia with isolated somatotropin deficiency (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [ORDO Disease]
Currated CISMeF NLP mapping
- Isolated growth hormone deficiency type III [ORDO Disease]
- Isolated growth hormone deficiency, type III, with agammaglobulinemia [OMIM Phenotype]
- X-linked agammaglobulinemia with growth hormone deficiency (disorder) [SNOMED CT concept]
- isolated growth hormone deficiency type III [DO Concept]
MeSH term(s) associated for indexing
- agammaglobulinemia [MeSH Descriptor]
- dwarfism, pituitary [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
Record concept(s)
- Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated growth hormone deficiency type III [ORDO Disease]
- Isolated growth hormone deficiency, type III, with agammaglobulinemia [OMIM Phenotype]
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia with growth hormone deficiency (disorder) [SNOMED CT concept]
- isolated growth hormone deficiency type III [DO Concept]

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