1279887007: Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of small intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Decay accelerating factor deficiency\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Complement regulatory factor defect\Decay accelerating factor deficiency\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5234348013 CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5234349017 CHAPLE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5234350017 Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234351018 Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234352013 A rare genetic disease characterised by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhoea, vomiting, primary intestinal lymphangiectasia, hypoproteinaemic oedema and malabsorption leading to anaemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinaemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5234353015 A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5899801000052118 syndrom med komplementhyperaktivering, angiopatisk trombos och enteropati med proteinförlust sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Decay accelerating factor deficiency	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Gastrointestinal complication	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Protein-losing enteropathy	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Due to	Decay accelerating factor deficiency	true	Inferred relationship	Some	3
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Finding site	Structure of small intestine (body structure)	true	Inferred relationship	Some	2
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5234348013	CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234349017	CHAPLE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234350017	Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234351018	Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234352013	A rare genetic disease characterised by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhoea, vomiting, primary intestinal lymphangiectasia, hypoproteinaemic oedema and malabsorption leading to anaemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinaemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234353015	A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5899801000052118	syndrom med komplementhyperaktivering, angiopatisk trombos och enteropati med proteinförlust	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)