719161008: Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Syndromic X-linked intellectual disability due to JARID1C mutation
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Syndromic X-linked intellectual disability due to JARID1C mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315210015	Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3315211016	Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315212011	Syndromic X-linked intellectual disability due to JARID1C mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315213018	Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315214012	This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.	en	Definition	Active	Case sensitive	SNOMED CT core
3315215013	This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.	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

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