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773587008: X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (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 Reference Sets
3724303010 X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3724304016 X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3724305015 A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
951111000172115 syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale 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)
2128961000172111 syndrome de déficience intellectuelle liée au chromosome X-cardiomégalie-insuffisance cardiaque congestive 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): Preferred (foundation metadata concept)
938501000172115 X-gebonden intellectuele achterstand, cardiomegalie, congestief hartfalen-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): Preferred (foundation metadata concept)
2128941000172112 "X-gebonden syndroom van verstandelijke handicap, cardiomegalie en congestief hartfalen" 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)
2128951000172114 "X-gebonden syndroom van verstandelijke beperking, cardiomegalie en congestief hartfalen" 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)
2128971000172119 "X-gebonden syndroom van mentale retardatie, cardiomegalie en congestief hartfalen" 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)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a Cardiac arrhythmia associated with genetic disorder (disorder) true Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a X-linked hereditary disease true Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Finding site Heart structure true Inferred relationship Some 1
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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