718910006: X-linked intellectual disability Stocco Dos Santos 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 Stocco Dos Santos type (disorder)

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

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Stocco Dos Santos type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Stocco Dos Santos type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability Stocco Dos Santos type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Stocco Dos Santos type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability Stocco Dos Santos 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

3314383016 X-linked intellectual disability Stocco Dos Santos type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314384010 X-linked intellectual disability Stocco Dos Santos type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314385011 This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314386012 This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

993201000172115 déficience intellectuelle liée à l'X type Stocco Dos Santos fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

997331000172112 intellectuele achterstand, X-gebonden, Stocco Dos Santos-type 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 Stocco Dos Santos type (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	retard mental	false	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
X-linked intellectual disability Stocco Dos Santos type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability Stocco Dos Santos type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
X-linked intellectual disability Stocco Dos Santos type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
X-linked intellectual disability Stocco Dos Santos type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability Stocco Dos Santos type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

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
3314383016	X-linked intellectual disability Stocco Dos Santos type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314384010	X-linked intellectual disability Stocco Dos Santos type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314385011	This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314386012	This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
993201000172115	déficience intellectuelle liée à l'X type Stocco Dos Santos	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
997331000172112	intellectuele achterstand, X-gebonden, Stocco Dos Santos-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)