770908007: syndrome 49,XXXYY (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\...
• \Sex chromosome aneuploidy (disorder)\49,XXXYY syndrome
• \Anomaly of chromosome X\49,XXXYY syndrome
• \Anomaly of chromosome Y\49,XXXYY syndrome
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\49,XXXYY syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome aneuploidy (disorder)\49,XXXYY syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\49,XXXYY syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\49,XXXYY syndrome
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\49,XXXYY syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703371012	49,XXXYY syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703373010	49,XXXYY syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
770011000241110	syndrome 49,XXXYY (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
980461000172112	syndrome 49,XXXYY	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3703372017	A rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703374016	A rare gonosome anomaly syndrome characterised by a eunuchoid habitus with gynaecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynaecomastia, hypogonadism, cryptorchidism, small penis and behavioural abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

Back to Start