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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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
3326223016 Cantalamessa Baldini Ambrosi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2174011000172118 "syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2174031000172114 syndrome de Cantalamessa-Baldini-Ambrosi fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2173991000172110 Cantalamessa-Baldini-Ambrosi-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2174001000172116 "syndroom van hypogenitalisme, mitralisklepprolaps en verstandelijke beperking" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2174021000172111 syndroom van hypogonadisme met mitralisklepprolaps en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2174041000172119 syndroom van Cantalamessa-Baldini-Ambrosi nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a retard mental false Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a Primary hypogonadism (disorder) true Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a Mitral valve prolapse (disorder) true Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 1
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Finding site Mitral valve structure true Inferred relationship Some 2
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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