768472004: X-linked acrogigantism (disorder)

Status: retired, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2799171000168112	X-LAG (X-linked acrogigantism) syndrome	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3685718010	Chromosome Xq26.3 duplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3685719019	X-linked acrogigantism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3685720013	X-linked acrogigantism	en	Synonym	Active	Case sensitive	SNOMED CT core
3685721012	Chromosome Xq26 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3685722017	X-linked acrogigantism (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3685723010	Pituitary abnormality that causes abnormally fast growth in infancy or early childhood. Individuals may present with hyperplasia of the pituitary gland or a benign pituitary adenoma. Rarely both pituitary hyperplasia and an adenoma may be present. The abnormal pituitary gland releases excess amounts of growth hormone and in some cases excess amounts of growth hormone releasing hormone. Additional manifestations of the disorder include coarse facial features, acral enlargement, an increased appetite and acanthosis nigricans. Caused by duplication on the X chromosome, the duplication, often referred to as an Xq26.3 microduplication, occurs on the long (q) arm of the chromosome at a location designated q26.3. The disease follows an X-linked dominant inheritance pattern. In females, the condition results from de novo duplications involving the GPR101 gene. In males, the condition often results from somatic mosaicism. Other affected males inherit the duplication from their affected mother.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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