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722206009: Pancreatic hypoplasia, diabetes mellitus, congenital heart disease 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
3331146016 Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331148015 Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331149011 Yorifuji Okuno syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331150011 This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited 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
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) Pancreas part true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of pancreas true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Diabetes mellitus true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) false Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) Congenital partial hypoplasia false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) structure du pancréas false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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