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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\Disorder of head (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Head finding (finding)\Disorder of head (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Eye / vision finding\Visual system disorder (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Eye / vision finding\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Eye / vision finding\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Eye / vision finding\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Functional finding\Decline in functional status (finding)\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Genetic disease\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Fetal and/or neonatal disorder\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Fetal and/or neonatal disorder\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Visual system disorder (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of body system\Visual system disorder (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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of head (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Disorder of head (disorder)\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Developmental disorder\Developmental hereditary disorder\Alacrima\Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Developmental disorder\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.
• \Disease\Developmental disorder\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 is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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.

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
5404171016	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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
5404172011	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterised by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. 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
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
6316601000241110	syndrome de déficience intellectuelle, alacrymie et achalasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381201001000119	Intelligenzminderung-Alakrimie-Achalasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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