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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome Xq27.3q28 duplication syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) Partial trisomy true Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) Partial trisomy true Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) Anomaly of chromosome X true Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) Duplication of chromosome false Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) Trisomy and partial trisomy of autosome false Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) Chromosomal morphology false Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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