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723448007: syndrome de la maladie cardiaque polyvalvulaire (trouble)


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
1001171000172110 syndrome de la maladie cardiaque polyvalvulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
759461000241111 syndrome de la maladie cardiaque polyvalvulaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
945591000172117 syndrome PHD (polyvalvular heart disease) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de la maladie cardiaque polyvalvulaire survenue (attribut) congénital true Inferred relationship Some 1
syndrome de la maladie cardiaque polyvalvulaire Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire localisation d'une constatation (attribut) face true Inferred relationship Some 1
syndrome de la maladie cardiaque polyvalvulaire Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) dysplasie true Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) Congenital dysplasia of cardiac valve (disorder) true Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire survenue (attribut) congénital true Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire localisation d'une constatation (attribut) valve cardiaque true Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire survenue (attribut) congénital false Inferred relationship Some 3
syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire localisation d'une constatation (attribut) face false Inferred relationship Some 2
syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
syndrome de la maladie cardiaque polyvalvulaire localisation d'une constatation (attribut) valve cardiaque false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

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