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723448007: Polyvalvular heart disease syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3424661010 Polyvalvular heart disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424662015 Polyvalvular heart disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424663013 Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
945591000172117 syndrome PHD (polyvalvular heart disease) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001171000172110 syndrome de la maladie cardiaque polyvalvulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Polyvalvular heart disease syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a Congenital dysplasia of cardiac valve (disorder) true Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Finding site Cardiac valve structure true Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Polyvalvular heart disease syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Finding site Face structure false Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Polyvalvular heart disease syndrome (disorder) Finding site Cardiac valve structure false Inferred relationship Some 3
Polyvalvular heart disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Polyvalvular heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Polyvalvular heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Polyvalvular heart disease syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Polyvalvular heart disease syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Polyvalvular heart disease 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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