1296869000: Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease (disorder)\Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5287418017 Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287419013 MECP2 (methyl-cytosine phosphate guanine binding protein-2) disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5287420019 Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5287421015 Methyl-cytosine phosphate guanine binding protein-2 related disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5287422010 Methyl-CpG binding protein 2 related disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287631019 MECP2 related disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Is a	X-linked hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rett syndrome	Is a	True	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Inferred relationship	Some
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.	Is a	True	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Inferred relationship	Some
PPM-X syndrome	Is a	True	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Inferred relationship	Some
A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.	Is a	True	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Inferred relationship	Some

Reference Sets