725591002: Congenital enterocyte heparan sulfate deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Mucosal finding\Disorder of mucous membrane (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of soft tissue of body cavity\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of trunk\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disorder of soft tissue of body cavity\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disorder of mucous membrane (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of soft tissue of body cavity\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of body cavity\Disorder of soft tissue of abdominal cavity (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3444183015	Congenital enterocyte heparan sulfate deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444184014	Congenital enterocyte heparan sulfate deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444185010	Congenital enterocyte heparan sulphate deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403494017	A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403495016	A rare, severe, genetic, intestinal disease characterised by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhoea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444183015	Congenital enterocyte heparan sulfate deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444184014	Congenital enterocyte heparan sulfate deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444185010	Congenital enterocyte heparan sulphate deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444186011	Disease that is characterized by massive enteric protein loss, secretory diarrhea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulfate. All three infants required total parenteral nutrition and repeated albumin infusions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444187019	Disease that is characterised by massive enteric protein loss, secretory diarrhoea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulphate. All three infants required total parenteral nutrition and repeated albumin infusions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403494017	A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403495016	A rare, severe, genetic, intestinal disease characterised by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhoea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3381301001000112	Enterozyten-Heparansulfat-Mangel, kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955211000172113	déficit congénital en héparane sulfate de l'entérocyte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955211000172113	déficit congénital en héparane sulfate de l'entérocyte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381301001000112	Enterozyten-Heparansulfat-Mangel, kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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