1186713004: Growth delay, intellectual disability, hepatopathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\constatation à propos du foie\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\troubles de l'appareil digestif spécifiques du fœtus ou du nouveau-né\Growth delay, intellectual disability, hepatopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \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\constatation à propos du foie\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \constatation à propos du nouveau-né\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of fetus or newborn (disorder)\troubles de l'appareil digestif spécifiques du fœtus ou du nouveau-né\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\Disorder of fetus or newborn (disorder)\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\troubles de l'appareil digestif spécifiques du fœtus ou du nouveau-né\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\trouble du développement\Growth retardation (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667406018	Growth delay, intellectual disability, hepatopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667407010	Growth delay, intellectual disability, hepatopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667408017	A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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