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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\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\Impaired cognition\Intellectual disability\X-linked intellectual disability, short stature, overweight syndrome
• \Functional finding\Cognitive function 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
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked intellectual disability, short stature, overweight syndrome
• \Weight finding\High body weight\Obese\Obesity\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\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\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\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 anomaly\Congenital malformation syndrome\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, Primitive. 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	Active	Case sensitive	SNOMED CT core
5146504018	X-linked intellectual disability, short stature, overweight syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5146505017	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	Case sensitive	SNOMED CT core
5146506016	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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