718896000: X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314339013	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314340010	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3314341014	This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome.	en	Definition	Inactive	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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