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773645004: Familial infantile gigantism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725352019 Hereditary infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725353012 Familial infantile gigantism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725354018 Familial infantile gigantism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725356016 Infantile gigantism due to pituitary hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725357013 A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial infantile gigantism (disorder) Has interpretation Increased true Inferred relationship Some 2
Familial infantile gigantism (disorder) Interprets Hormone production true Inferred relationship Some 2
Familial infantile gigantism (disorder) Is a Hypersomatotropic gigantism true Inferred relationship Some
Familial infantile gigantism (disorder) Due to Increased hormone secretion false Inferred relationship Some 3
Familial infantile gigantism (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Familial infantile gigantism (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 1
Familial infantile gigantism (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Familial infantile gigantism (disorder) Occurrence Infancy true Inferred relationship Some 1
Familial infantile gigantism (disorder) Associated morphology Growth acceleration true Inferred relationship Some 1
Familial infantile gigantism (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Familial infantile gigantism (disorder) Due to Overproduction of growth hormone true Inferred relationship Some 3
Familial infantile gigantism (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Familial infantile gigantism (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Familial infantile gigantism (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Familial infantile gigantism (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Familial infantile gigantism (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked acrogigantism due to Xq26 microduplication Is a True Familial infantile gigantism (disorder) Inferred relationship Some

Reference Sets

GB English

US English

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