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773645004: gigantisme infantile familial (trouble)


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
771761000241116 gigantisme infantile familial (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
930421000172113 gigantisme infantile héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
999161000172113 gigantisme infantile familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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) a pour interprétation (attribut) augmenté true Inferred relationship Some 2
Familial infantile gigantism (disorder) interprète (attribut) Hormone production, function (observable entity) true Inferred relationship Some 2
Familial infantile gigantism (disorder) est un(e) (attribut) Hypersomatotropic gigantism true Inferred relationship Some
Familial infantile gigantism (disorder) Due to Increased hormone secretion false Inferred relationship Some 3
Familial infantile gigantism (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Familial infantile gigantism (disorder) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 1
Familial infantile gigantism (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Familial infantile gigantism (disorder) survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 1
Familial infantile gigantism (disorder) morphologie associée (attribut) Growth acceleration (morphologic abnormality) 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) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Familial infantile gigantism (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Familial infantile gigantism (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 4
Familial infantile gigantism (disorder) est un(e) (attribut) 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 est un(e) (attribut) True Familial infantile gigantism (disorder) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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