719160009: syndromale X-gebonden verstandelijke beperking type 7 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Obesity (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Hypogonadism	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Obesity (disorder)	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Has definitional manifestation	Obese (finding)	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 7 (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	3
Syndromic X-linked intellectual disability type 7 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Syndromic X-linked intellectual disability type 7 (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Syndromic X-linked intellectual disability type 7 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Syndromic X-linked intellectual disability type 7 (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Syndromic X-linked intellectual disability type 7 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315205019	Syndromic X-linked intellectual disability type 7 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315207010	Syndromic X-linked intellectual disability type 7	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315208017	X-linked intellectual disability Ahmad type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6956261000146114	syndromale X-gebonden mentale retardatie type 7	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494651000146110	syndromale X-gebonden verstandelijke beperking type 7 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719211000146116	syndromale X-gebonden verstandelijke beperking type 7	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7796771000146111	X-gebonden verstandelijke handicap type Ahmad	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3315209013	This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core