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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, alacrima, achalasia syndrome

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

\Finding of head region\Lacrimal system finding\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome
\Finding of head region\Lacrimal system finding\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Disorder of lacrimal gland\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of lacrimal system\Congenital anomaly of lacrimal system\Congenital anomaly of lacrimal gland\Alacrima\Intellectual disability, alacrima, achalasia syndrome

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3643593016 Intellectual disability, alacrima, achalasia syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643592014	Intellectual disability, alacrima, achalasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643593016	Intellectual disability, alacrima, achalasia syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core