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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\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\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

\Body measurement finding\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\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 (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\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\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

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

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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

907621000172118 syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

907621000172118 syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	macrocéphalie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Finding site	Head structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
907621000172118	syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
907621000172118	syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module