FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.22-SNAPSHOT | FHIR Version n/a User: [n/a]

253215004: Alacrima (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
\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
\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
\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
\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
\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
\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
\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
\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

\Functional finding\Decline in functional status (finding)\Alacrima

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

377114010 Alacrima en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

643947017 Alacrima (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5069791000241117 alacrymie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

621111000274114 Alakrimie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alacrima	Is a	Congenital anomaly of lacrimal gland	true	Inferred relationship	Some
Alacrima	Occurrence	Congenital	false	Inferred relationship	Some
Alacrima	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Alacrima	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Alacrima	Finding site	Eye structure	false	Inferred relationship	Some
Alacrima	Finding site	Lacrimal gland structure	true	Inferred relationship	Some	1
Alacrima	Finding site	Structure of orbit proper	false	Inferred relationship	Some	2
Alacrima	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Alacrima	Finding site	Lacrimal gland structure	false	Inferred relationship	Some	1
Alacrima	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Alacrima	Occurrence	Congenital	false	Inferred relationship	Some	2
Alacrima	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Alacrima	Finding site	Lacrimal gland structure	false	Inferred relationship	Some	2
Alacrima	Occurrence	Congenital	true	Inferred relationship	Some	1
Alacrima	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Alacrima	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Alacrima	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Alacrima	Interprets	Tear production	true	Inferred relationship	Some	2
Alacrima	Has interpretation	Decreased	true	Inferred relationship	Some	2
Alacrima	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Alacrima	Is a	Decline in functional status (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	Is a	True	Alacrima	Inferred relationship	Some
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.	Is a	True	Alacrima	Inferred relationship	Some
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria.	Is a	True	Alacrima	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
377114010	Alacrima	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643947017	Alacrima (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069791000241117	alacrymie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
621111000274114	Alakrimie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module