pituitary dwarfism 1

Preferred Label : pituitary dwarfism 1;

MeSH synonym : isolated growth hormone deficiency, type 1b; sexual ateleiotic dwarfism; growth hormone deficiency, isolated, autosomal recessive; nanism due to growth hormone isolated deficiency; IGHD1A; pituitary dwarfism I; isolated growth hormone deficiency, type IA;

Details

Origin ID

C537404;

UMLS CUI

C0342573;

CISMeF manual mappings
- Ateliotic dwarf (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Ateleiotic dwarfism (disorder) [SNOMED CT concept]
- Isolated growth hormone deficiency type IA [ORDO Disease]
- Isolated growth hormone deficiency, type ia [OMIM Phenotype]
- ateleiotic dwarfism [SNOMED Notion]
- isolated growth hormone deficiency type IA [DO Concept]
MeSH term(s) associated for indexing
- dwarfism, pituitary [MeSH Descriptor]
Record concept(s)
- Pituitary dwarfism 1 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ateleiotic dwarfism (disorder) [SNOMED CT concept]
- Ateliotic dwarf (disorder) [Inactive SNOMED CT concept]
- Isolated growth hormone deficiency type IA [ORDO Disease]
- Isolated growth hormone deficiency, type ia [OMIM Phenotype]
- ateleiotic dwarfism [SNOMED Notion]
- isolated growth hormone deficiency type IA [DO Concept]

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