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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation fonctionnelle\Increased hormone production\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Endocrine finding\Increased hormone production\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\X-linked acrogigantism due to Xq26 microduplication
• \Disease\trouble du développement\Developmental hereditary disorder\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication
• \Disease\trouble du développement\anomalie staturale\Gigantism\Hypersomatotropic gigantism\Familial infantile gigantism (disorder)\X-linked acrogigantism due to Xq26 microduplication

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787618017	X-LAG (X-linked acrogigantism) due Xq26 microduplication	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787620019	X-linked acrogigantism due to Xq26 microduplication	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787621015	X-linked acrogigantism due to Xq26 microduplication (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787696019	Chromosome Xq26 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start