718896000: syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

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

\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\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\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)
\Disease\trouble du développement\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

753271000241119 syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	morphologie associée (attribut)	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	localisation d'une constatation (attribut)	structure de la tête	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	interprète (attribut)	Head circumference	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	Macrocephaly	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	morphologie associée (attribut)	Congenital enlargement (morphologic abnormality)	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	localisation d'une constatation (attribut)	Entire head	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

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
753271000241119	syndrome de déficience intellectuelle récessive liée à l'X-macrocéphalie-dysfonction ciliaire (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)