768843007: syndroom van grote gestalte, verstandelijke beperking en faciale dysmorfie (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Disorder of stature	true	Inferred relationship	Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Tall stature, intellectual disability, facial dysmorphism 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

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Id	Description	Lang	Type	Status	Case?	Module
3687209013	Tatton Brown Rahman overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687210015	DNA methyltransferase 3 alpha overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687211016	Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687212011	DNMT3A-related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687213018	Tatton Brown Rahman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687214012	Tall stature, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6729421000146118	TBRS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729431000146116	syndroom van Tatton-Brown-Rahman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729441000146112	overgroeisyndroom van Tatton-Brown-Rahman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729461000146113	Tatton-Brown-Rahman-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729471000146119	DNMT3A-gerelateerd overgroeisyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7176021000146112	syndroom van grote gestalte, verstandelijke beperking en faciale dysmorfie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7176031000146114	syndroom van grote gestalte, verstandelijke beperking en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8687191000146114	syndroom van grote lengte, verstandelijke handicap en congenitale afwijking van aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8687201000146111	syndroom van grote lengte, mentale retardatie en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8687211000146113	DNA-methyltransferase-3-alfa-gerelateerd overgroeisyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3687215013	A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core