1255335006: X-linked intellectual disability, short stature, overweight syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked intellectual disability, short stature, overweight syndrome
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\X-linked intellectual disability, short stature, overweight syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Obesity (disorder)\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Developmental delay\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\X-linked intellectual disability, short stature, overweight syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5146503012	X-linked intellectual disability, short stature, overweight syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5146504018	X-linked intellectual disability, short stature, overweight syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400380015	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400381016	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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