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715987000: syndrome de cardiopathie congénitale-face ronde-petite taille (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304337016 Sonoda syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310921016 Congenital heart defect with round face and developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310922011 Congenital heart defect with round face and developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
749041000241116 syndrome de cardiopathie congénitale-face ronde-petite taille (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
955901000172118 syndrome de cardiopathie congénitale-face ronde-petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
961041000172111 syndrome de Sonoda fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3304338014 A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. 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
Sonoda syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sonoda syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Sonoda syndrome survenue (attribut) congénital true Inferred relationship Some 1
Sonoda syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sonoda syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Sonoda syndrome localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Sonoda syndrome est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Sonoda syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Sonoda syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Sonoda syndrome est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Sonoda syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Sonoda syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Sonoda syndrome survenue (attribut) congénital true Inferred relationship Some 2
Sonoda syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 2
Sonoda syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Sonoda syndrome survenue (attribut) congénital false Inferred relationship Some 3
Sonoda syndrome localisation d'une constatation (attribut) cœur false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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