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

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Lacrimal system finding (finding)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Finding of head region\Lacrimal system finding (finding)\Disorder of lacrimal system\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 (disorder)\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)\Disorder of lacrimal system\Disorder of lacrimal gland\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)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Eye / vision finding\Lacrimal system finding (finding)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Lacrimal system finding (finding)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\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

4154511000052113 syndrom med intellektuell funktionsnedsättning, avsaknad av tårkörtel och akalasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	Alacrima	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Finding site	Lacrimal gland structure	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, alacrima, achalasia syndrome (disorder)	Interprets	Tear production	true	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Intellectual disability, alacrima, achalasia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Intellectual disability, alacrima, achalasia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Intellectual disability, alacrima, achalasia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
4154511000052113	syndrom med intellektuell funktionsnedsättning, avsaknad av tårkörtel och akalasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)