766760004: Small ring X chromosome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Small ring X chromosome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Small ring X chromosome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662527014	X small rings	en	Synonym	Active	Case sensitive	SNOMED CT core
3662531015	Small ring X chromosome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3662532010	Small ring X chromosome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3662526017	A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core
3777354016	A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented naevi and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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