789187001: X-linked acrogigantism due to Xq26 microduplication (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Functional finding\Increased hormone production\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Endocrine finding\Increased hormone production\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Developmental disorder\Developmental hereditary disorder\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Developmental disorder\Disorder of stature\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism\X-linked acrogigantism due to Xq26 microduplication

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787620019	X-linked acrogigantism due to Xq26 microduplication	en	Synonym	Active	Case sensitive	SNOMED CT core
3787621015	X-linked acrogigantism due to Xq26 microduplication (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3787696019	Chromosome Xq26 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5159798016	X-LAG (X-linked acrogigantism) due to Xq26 microduplication	en	Synonym	Active	Case sensitive	SNOMED CT core
3787697011	A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start