768843007: Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)

• 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\Intelligenzminderung\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\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)\Intelligenzminderung\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\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\Congenital malformation\Congenital malformation syndrome\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\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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (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)\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:

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
5404743019	A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404744013	A rare multiple congenital anomalies syndrome characterised by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioural and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5404743019	A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404744013	A rare multiple congenital anomalies syndrome characterised by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioural and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425611001000118	Tatton-Brown-Rahman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975851000172111	syndrome de grande taille-déficience intellectuelle-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994011000172112	syndrome de Tatton-Brown-Rahman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975851000172111	syndrome de grande taille-déficience intellectuelle-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994011000172112	syndrome de Tatton-Brown-Rahman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3425611001000118	Tatton-Brown-Rahman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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