725591002: déficit congénital en héparane sulfate de l'entérocyte (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\constatation à propos d'une muqueuse\Disorder of mucous membrane (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Bowel finding\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary 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)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\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 lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)

\constatation à propos d'une structure du tronc\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 lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Bowel finding\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\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 (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\affection des tissus mous du tronc\Congenital enterocyte heparan sulfate deficiency (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\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 (disorder)

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection des tissus mous du tronc\Congenital enterocyte heparan sulfate deficiency (disorder)

\Disease\affection d'un système corporel\Disorder of mucous membrane (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of gastrointestinal tract mucous membrane (disorder)\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection du tronc\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 (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine (disorder)\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of lower gastrointestinal tract (disorder)\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection du tronc\affection des tissus mous du tronc\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\affection du tronc\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 (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\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 (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\Disorder of soft tissue\affection des tissus mous du tronc\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\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 (disorder)
\Disease\trouble du développement\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 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital enterocyte heparan sulfate deficiency (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Congenital anomaly of lower alimentary 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

761321000241116 déficit congénital en héparane sulfate de l'entérocyte (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

955211000172113 déficit congénital en héparane sulfate de l'entérocyte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital enterocyte heparan sulfate deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	est un(e) (attribut)	affection des tissus mous du tronc	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency (disorder)	est un(e) (attribut)	Congenital anomaly of intestinal tract	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency (disorder)	est un(e) (attribut)	Disorder of gastrointestinal tract mucous membrane (disorder)	true	Inferred relationship	Some
Congenital enterocyte heparan sulfate deficiency (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	localisation d'une constatation (attribut)	structure de la muqueuse intestinale (structure corporelle)	true	Inferred relationship	Some	1

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 (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
761321000241116	déficit congénital en héparane sulfate de l'entérocyte (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955211000172113	déficit congénital en héparane sulfate de l'entérocyte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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