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721841001: Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3326221019 Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326222014 Hypogonadism with mitral valve prolapse and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326223016 Cantalamessa Baldini Ambrosi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402704019 This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402705018 This syndrome is characterised by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326221019 Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326221019 Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326222014 Hypogonadism with mitral valve prolapse and intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326222014 Hypogonadism with mitral valve prolapse and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326223016 Cantalamessa Baldini Ambrosi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326224010 Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402704019 This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402705018 This syndrome is characterised by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450791001000113 Hypogonadismus-Mitralklappenprolaps-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013521000241113 syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013521000241113 syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450791001000113 Hypogonadismus-Mitralklappenprolaps-Intelligenzminderung-Syndrom 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
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a Primary hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a Mitral valve prolapse true Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Associated morphology Prolapse true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Finding site Mitral valve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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