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718881004: Chromosome Xq27.3q28 duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314293013 Chromosome Xq27.3q28 duplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314294019 Chromosome Xq27.3q28 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401891013 Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401892018 Xq27.3q28 duplication syndrome is a recently described syndrome characterised by short stature, hypogonadism, developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314293013 Chromosome Xq27.3q28 duplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314294019 Chromosome Xq27.3q28 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314295018 A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401891013 Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401892018 Xq27.3q28 duplication syndrome is a recently described syndrome characterised by short stature, hypogonadism, developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419381001000111 Mikroduplikationssyndrom Xq27.3-q28 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816361000241118 trisomie Xq27.3q28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816371000241114 syndrome de duplication du chromosome Xq27.3q28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816361000241118 trisomie Xq27.3q28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816371000241114 syndrome de duplication du chromosome Xq27.3q28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419381001000111 Mikroduplikationssyndrom Xq27.3-q28 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome Xq27.3q28 duplication syndrome Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a Duplication of chromosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Associated morphology Chromosomal morphology (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Finding site Sex chromosome X (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xq27.3q28 duplication syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xq27.3q28 duplication syndrome Finding site Sex chromosome X (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xq27.3q28 duplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xq27.3q28 duplication syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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