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\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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\Disorder of intestine\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 malformation\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 malformation\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 malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\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 malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency
\Disease\Developmental disorder\Congenital malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3444183015 Congenital enterocyte heparan sulfate deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3444184014 Congenital enterocyte heparan sulfate deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

3444185010 Congenital enterocyte heparan sulphate deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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