719016007: X-linked intellectual disability Cantagrel type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease (disorder)\X-linked recessive hereditary disease\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

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
3314679014	Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314680012	Characterised by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastrooesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401921017	A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401922012	A rare X-linked intellectual disability characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastro-oesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314677011	X-linked intellectual disability Cantagrel type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314678018	X-linked intellectual disability Cantagrel type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start