725591002: Congenital enterocyte heparan sulfate deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Mucosal finding\Disorder of mucous membrane\Disorder of gastrointestinal tract mucous membrane\Congenital enterocyte heparan sulfate deficiency

\Viscus structure finding\Abdominal organ finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of soft tissue of trunk\Congenital enterocyte heparan sulfate deficiency
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of trunk\Congenital enterocyte heparan sulfate deficiency

\Disease\Disorder of body system\Disorder of mucous membrane\Disorder of gastrointestinal tract mucous membrane\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Disorder of soft tissue of trunk\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Congenital enterocyte heparan sulfate deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3444184014 Congenital enterocyte heparan sulfate deficiency en Synonym Active Case insensitive SNOMED CT core

3444185010 Congenital enterocyte heparan sulphate deficiency en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital enterocyte heparan sulfate deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency	Is a	Disorder of soft tissue of trunk	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency	Is a	Congenital anomaly of intestinal tract	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency	Is a	Disorder of gastrointestinal tract mucous membrane	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency	Finding site	Intestinal mucous membrane structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3444183015	Congenital enterocyte heparan sulfate deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3444184014	Congenital enterocyte heparan sulfate deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3444185010	Congenital enterocyte heparan sulphate deficiency	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core