702816000: Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)

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

\Genetic disease\MECP2 duplication syndrome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\MECP2 duplication syndrome

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\MECP2 duplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3006199010 Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3006205015 MECP2 duplication syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3006209014 Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3006219015 Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3009035015 Lubs X-linked mental retardation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643143014 Lubs X-linked intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5169937018 Proximal Xq28 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5169941019 A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11359881000172114 syndrome de duplication MECP2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11359891000172112 syndrome de déficience intellectuelle liée à l'X, hypotonie et infections récurrentes fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11359901000172111 syndrome de déficience intellectuelle lié à l'X de type Lubs fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4630941000172115 syndroom van Lubs-Arena nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4630951000172118 MECP2-duplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4630961000172116 X-gebonden mentale retardatie Lubs type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4630971000172113 Lubs-Arena-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4630981000172111 'methyl-cytosine phosphate guanine binding protein 2'-duplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MECP2 duplication syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
MECP2 duplication syndrome	Is a	Duplication of chromosome	false	Inferred relationship	Some
MECP2 duplication syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
MECP2 duplication syndrome	Is a	retard mental	false	Inferred relationship	Some
MECP2 duplication syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
MECP2 duplication syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
MECP2 duplication syndrome	Is a	trisomie chromosomique Xq28	false	Inferred relationship	Some
MECP2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
MECP2 duplication syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
MECP2 duplication syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
MECP2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
MECP2 duplication syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
MECP2 duplication syndrome	Finding site	Face structure	false	Inferred relationship	Some	2
MECP2 duplication syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
MECP2 duplication syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
MECP2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
MECP2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
MECP2 duplication syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Some	3
MECP2 duplication syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
MECP2 duplication syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
MECP2 duplication syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
MECP2 duplication syndrome	Is a	Genetic disease	true	Inferred relationship	Some
MECP2 duplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
MECP2 duplication syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	3

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
3006199010	Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3006205015	MECP2 duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3006209014	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006219015	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009035015	Lubs X-linked mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643143014	Lubs X-linked intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5169937018	Proximal Xq28 duplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5169941019	A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11359881000172114	syndrome de duplication MECP2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11359891000172112	syndrome de déficience intellectuelle liée à l'X, hypotonie et infections récurrentes	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11359901000172111	syndrome de déficience intellectuelle lié à l'X de type Lubs	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4630941000172115	syndroom van Lubs-Arena	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4630951000172118	MECP2-duplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4630961000172116	X-gebonden mentale retardatie Lubs type	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4630971000172113	Lubs-Arena-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4630981000172111	'methyl-cytosine phosphate guanine binding protein 2'-duplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)