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722206009: Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3331148015 Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome en Synonym Active Case insensitive SNOMED CT core
3331149011 Yorifuji Okuno syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Occurrence Congenital true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Structure of heart true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Structure of endocrine system false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Pancreas part true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Congenital heart disease true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Congenital hypoplasia of pancreas true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Diabetes mellitus true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Structure of endocrine system false Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence Congenital false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Structure of heart false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology Congenital partial hypoplasia false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence Congenital false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Pancreatic structure false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence Congenital true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Finding site Structure of endocrine system false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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