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718182008: Combined pituitary hormone deficiency genetic form (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3311172019 Familial congenital hypopituitarism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311175017 Combined pituitary hormone deficiency genetic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311409015 Combined pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311410013 Multiple pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401701013 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401702018 Congenital hypopituitarism is characterised by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311172019 Familial congenital hypopituitarism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311172019 Familial congenital hypopituitarism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311175017 Combined pituitary hormone deficiency genetic form (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311175017 Combined pituitary hormone deficiency genetic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311409015 Combined pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311409015 Combined pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311410013 Multiple pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311410013 Multiple pituitary hormone deficiency genetic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311171014 Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401701013 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401702018 Congenital hypopituitarism is characterised by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3397391001000110 Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878771000172112 déficits hypohysaires combinés de cause génétique identifée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996921000172112 déficits hypohysaires multiples de cause génétique identifée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878771000172112 déficits hypohysaires combinés de cause génétique identifée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996921000172112 déficits hypohysaires multiples de cause génétique identifée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3397391001000110 Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined pituitary hormone deficiency genetic form (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a Hypopituitarism true Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Finding site Pituitary structure false Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined pituitary hormone deficiency genetic form (disorder) Finding site Pituitary structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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