154361000146108: syndroom van groeiretardatie, verstandelijke beperking en hepatopathie (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

\Digestive system finding (finding)\Liver finding\Disease of liver\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

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

\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

\Finding of neonate\Neonatal disorder\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\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 retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Developmental disorder\Growth retardation (disorder)\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

12991181000146110 Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12991191000146112 GRIDHH en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12991201000146114 Growth retardation, intellectual developmental disorder, hypotonia and hepatopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12991211000146111 Growth retardation, intellectual developmental disorder and hepatopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998231000146113 syndroom van groeiretardatie, verstandelijke handicap en hepatopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998241000146117 GRIDDH nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12998251000146119 syndroom van groeiachterstand, 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)

13012561000146118 syndroom van groeiretardatie, 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)

13012571000146112 syndroom van groeiretardatie, 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)

12991641000146114 A rare, genetic, syndromic intellectual disability disease characterized by 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 Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12991181000146110	Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12991191000146112	GRIDHH	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12991201000146114	Growth retardation, intellectual developmental disorder, hypotonia and hepatopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12991211000146111	Growth retardation, intellectual developmental disorder and hepatopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12998231000146113	syndroom van groeiretardatie, verstandelijke handicap en hepatopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12998241000146117	GRIDDH	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12998251000146119	syndroom van groeiachterstand, 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)
13012561000146118	syndroom van groeiretardatie, 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)
13012571000146112	syndroom van groeiretardatie, 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)
12991641000146114	A rare, genetic, syndromic intellectual disability disease characterized by 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 Netherlands NRC maintained module (core metadata concept)