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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
3936291000052110 syndrom med pankreashypoplasi, diabetes mellitus och medfödd hjärtsjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Congenital hypoplasia of pancreas true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Diabetes mellitus true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Heart structure false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology kongenital partiell hypoplasi false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Pancreatic structure false Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Occurrence Congenital 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) Finding site Heart structure true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Finding site Pancreas part true Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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