719013004: X-linked intellectual disability Cilliers type (disorder)

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

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked intellectual disability Cilliers type (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\X-linked intellectual disability Cilliers type (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\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (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\X-linked intellectual disability Cilliers type (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\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (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\X-linked intellectual disability Cilliers type (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\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\X-linked intellectual disability Cilliers type (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (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\X-linked intellectual disability Cilliers type (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\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Cilliers type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\X-linked intellectual disability Cilliers type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3314668016 X-linked intellectual disability Cilliers type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314669012 X-linked intellectual disability Cilliers type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314670013 X-linked intellectual disability, microcephaly, testicular failure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314671012 X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Cilliers type (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	Primary hypogonadism (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
X-linked intellectual disability Cilliers type (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
X-linked intellectual disability Cilliers type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability Cilliers type (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3
X-linked intellectual disability Cilliers type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability Cilliers type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability Cilliers type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability Cilliers type (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
3314668016	X-linked intellectual disability Cilliers type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314669012	X-linked intellectual disability Cilliers type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314670013	X-linked intellectual disability, microcephaly, testicular failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314671012	X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core