1186713004: syndroom van vertraagde groei, verstandelijke beperking en hepatopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome

\Digestive system finding (finding)\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome

\Finding of neonate\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Developmental disorder\Growth retardation (disorder)\Growth delay, intellectual disability, hepatopathy syndrome
\Disease\Developmental disorder\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

13245401000146111 syndroom van groeiachterstand, verstandelijke handicap en leverziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13245411000146113 syndroom van groeivertraging, mentale retardatie en aandoening van lever nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13245421000146115 syndroom van vertraagde groei, verstandelijke beperking en hepatopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13245431000146118 syndroom van vertraagde groei, verstandelijke beperking en hepatopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Neonatal disorder	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Disease of liver	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Growth retardation (disorder)	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	2
Growth delay, intellectual disability, hepatopathy syndrome	Finding site	Liver structure	true	Inferred relationship	Some	2
Growth delay, intellectual disability, hepatopathy syndrome	Associated morphology	Growth retardation	true	Inferred relationship	Some	1
Growth delay, intellectual disability, hepatopathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Growth delay, intellectual disability, hepatopathy syndrome	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Growth delay, intellectual disability, hepatopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Growth delay, intellectual disability, hepatopathy syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Growth delay, intellectual disability, hepatopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
13245401000146111	syndroom van groeiachterstand, verstandelijke handicap en leverziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13245411000146113	syndroom van groeivertraging, mentale retardatie en aandoening van lever	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13245421000146115	syndroom van vertraagde groei, verstandelijke beperking en hepatopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13245431000146118	syndroom van vertraagde groei, verstandelijke beperking en hepatopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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