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

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
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 Only initial character case insensitive (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 Only initial character 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
6025631000241117 syndrome de duplication MECP2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6025641000241110 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) SNOMED CT Switzerland NRC maintained Module
6025651000241113 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) SNOMED CT Switzerland NRC maintained Module
6025631000241117 syndrome de duplication MECP2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6025641000241110 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) SNOMED CT Switzerland NRC maintained Module
6025651000241113 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) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Duplication of chromosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Xq28-Duplikationssyndrom, proximales false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Genetic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Finding site Sex chromosome X (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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