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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Cantagrel type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Cantagrel type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Cantagrel type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Cantagrel type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Cantagrel type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Cantagrel type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Cantagrel type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Cantagrel type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314677011	X-linked intellectual disability Cantagrel type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314678018	X-linked intellectual disability Cantagrel type	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start