718896000: X-gebonden recessief syndroom van verstandelijke beperking, macrocefalie en ciliaire disfunctie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (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
3314339013	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314340010	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6960391000146116	X-gebonden recessief syndroom van mentale retardatie, macrocefalie en ciliaire disfunctie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495721000146112	X-gebonden recessief syndroom van verstandelijke beperking, macrocefalie en ciliaire disfunctie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719491000146113	X-gebonden recessief syndroom van verstandelijke beperking, macrocefalie en ciliaire disfunctie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7797421000146118	X-gebonden recessief syndroom van verstandelijke handicap, macrocefalie en ciliaire disfunctie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start