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230502003: Congenital anosmia (disorder)

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

\Functional finding\Finding of sense of smell\...

\Disorder of smell (disorder)\Congenital anosmia

\Loss of sense of smell\Congenital anosmia

\Neurological finding (finding)\Sensory nervous system finding\Finding of sensation by site (finding)\...

\Sensory disorder of smell and/or taste\Disorder of smell (disorder)\Congenital anosmia

\Finding of sense of smell\Disorder of smell (disorder)\Congenital anosmia
\Finding of sense of smell\Loss of sense of smell\Congenital anosmia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anosmia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of olfactory system\Disorder of smell (disorder)\Congenital anosmia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anosmia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Sensory disorder\Sensory disorder of smell and/or taste\Disorder of smell (disorder)\Congenital anosmia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anosmia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345401011 Congenital anosmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618319019 Congenital anosmia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1671791000005113 kongenit anosmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anosmia	Is a	Congenital abnormality of nose and nasopharynx	false	Inferred relationship	Some
Congenital anosmia	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Congenital anosmia	Finding site	Upper respiratory tract structure	false	Inferred relationship	Some
Congenital anosmia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anosmia	Finding site	Nasal structure	false	Inferred relationship	Some	1
Congenital anosmia	Is a	Disorder of the nose (disorder)	false	Inferred relationship	Some
Congenital anosmia	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Congenital anosmia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anosmia	Is a	Congenital anomaly of nose	false	Inferred relationship	Some
Congenital anosmia	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anosmia	Finding site	Nasal structure	false	Inferred relationship	Some	1
Congenital anosmia	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anosmia	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anosmia	Is a	Loss of sense of smell	true	Inferred relationship	Some
Congenital anosmia	Interprets	Sense of smell, function (observable entity)	true	Inferred relationship	Some	2
Congenital anosmia	Finding site	Nasal structure	false	Inferred relationship	Some	2
Congenital anosmia	Is a	Disorder of smell (disorder)	true	Inferred relationship	Some
Congenital anosmia	Is a	Congenital anomaly of nose	false	Inferred relationship	Some
Congenital anosmia	Finding site	Structure of olfactory system (body structure)	false	Inferred relationship	Some	3
Congenital anosmia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anosmia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anosmia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anosmia	Is a	Finding of sensation of nose	false	Inferred relationship	Some
Congenital anosmia	Has interpretation	Absent	true	Inferred relationship	Some	2
Congenital anosmia	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Congenital anosmia	Finding site	Structure of olfactory system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and with characteristics of complete congenital anosmia.	Is a	True	Congenital anosmia	Inferred relationship	Some
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.	Is a	True	Congenital anosmia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345401011	Congenital anosmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618319019	Congenital anosmia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1671791000005113	kongenit anosmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)