763741001: Intellectual disability, alacrima, achalasia syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Finding of head region\constatation à propos de l'appareil lacrymal\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Finding of head region\constatation à propos de l'appareil lacrymal\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos de l'appareil lacrymal\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos de l'appareil lacrymal\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\constatation fonctionnelle\Decline in functional status (finding)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\affection des glandes lacrymales (trouble)\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection de l'appareil lacrymal (trouble)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643592014 Intellectual disability, alacrima, achalasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643593016 Intellectual disability, alacrima, achalasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643594010 A rare genetic intellectual disability syndrome with characteristics of delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, alacrima, achalasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	interprète (attribut)	Tear production, function (observable entity)	true	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	est un(e) (attribut)	Alacrima	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	false	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	localisation d'une constatation (attribut)	glande lacrymale (structure corporelle)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3643592014	Intellectual disability, alacrima, achalasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643593016	Intellectual disability, alacrima, achalasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643594010	A rare genetic intellectual disability syndrome with characteristics of delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core