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\Intelligenzminderung\X-linked intellectual disability Cilliers type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (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\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability Cilliers type (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Cilliers type (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (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 (disorder)\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability Cilliers type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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
5401919010	A rare developmental defect characterized by 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401920016	A rare developmental defect characterised by 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5401919010	A rare developmental defect characterized by 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401920016	A rare developmental defect characterised by 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440731001000112	Intelligenzminderung, X-chromosomale, Typ Cilliers	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949641000172114	déficience intellectuelle liée à l'X type Cilliers	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016521000172111	syndrome de déficience intellectuelle liée à l'X, microcéphalie, insuffisance testiculaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949641000172114	déficience intellectuelle liée à l'X type Cilliers	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016521000172111	syndrome de déficience intellectuelle liée à l'X, microcéphalie, insuffisance testiculaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440731001000112	Intelligenzminderung, X-chromosomale, Typ Cilliers	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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