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\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\X-linked intellectual disability, short stature, overweight syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 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

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13674411000172116 syndroom van X-gebonden mentale retardatie, kleine gestalte en overgewicht nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13674421000172114 syndroom van X-gebonden verstandelijke handicap, dwerggroei en obesitas nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13674431000172112 syndroom van X-gebonden verstandelijke beperking, kleine gestalte en obesitas nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability, short stature, overweight syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	Speech delay	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	Obesity (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
X-linked intellectual disability, short stature, overweight syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
X-linked intellectual disability, short stature, overweight syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability, short stature, overweight syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked intellectual disability, short stature, overweight syndrome	Interprets	Ability to perform functions related to communication	true	Inferred relationship	Some	4
X-linked intellectual disability, short stature, overweight syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
X-linked intellectual disability, short stature, overweight syndrome	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability, short stature, overweight syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
X-linked intellectual disability, short stature, overweight syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	6
X-linked intellectual disability, short stature, overweight syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	6
X-linked intellectual disability, short stature, overweight syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability, short stature, overweight syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability, short stature, overweight syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13674411000172116	syndroom van X-gebonden mentale retardatie, kleine gestalte en overgewicht	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13674421000172114	syndroom van X-gebonden verstandelijke handicap, dwerggroei en obesitas	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13674431000172112	syndroom van X-gebonden verstandelijke beperking, kleine gestalte en obesitas	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)