770626007: Congenital Horner syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Congenital Horner syndrome (disorder)

\Developmental hereditary disorder\Congenital Horner syndrome (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital Horner syndrome (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Congenital Horner syndrome (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Autonomic neuropathy\Segmental autonomic dysfunction\Horner syndrome\Congenital Horner syndrome (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Congenital Horner syndrome (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Congenital Horner syndrome (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Autonomic neuropathy\Segmental autonomic dysfunction\Horner syndrome\Congenital Horner syndrome (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Disorder of sympathetic nervous system (disorder)\Horner syndrome\Congenital Horner syndrome (disorder)

\Congenital disease (disorder)\Congenital Horner syndrome (disorder)

\Developmental disorder\Developmental hereditary disorder\Congenital Horner syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3701687013 Congenital Horner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701688015 Congenital Horner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701689011 Congenital Claude Bernard Horner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701690019 A rare neurological disorder with characteristics of relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

907681000172119 syndrome de Horner congénital fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

927951000172112 syndrome congénital de Claude-Bernard-Horner fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

945101000172117 congenitaal syndroom van Claude-Bernard-Horner nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

981031000172118 congenitaal syndroom van Horner nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital Horner syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital Horner syndrome (disorder)	Is a	syndrome de Claude Bernard-Horner	false	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	Congenital ptosis (disorder)	false	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Interprets	Pupil constriction (observable entity)	false	Inferred relationship	Some	4
Congenital Horner syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital Horner syndrome (disorder)	Finding site	Upper eyelid structure	false	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Finding site	Pupil structure (body structure)	false	Inferred relationship	Some	3
Congenital Horner syndrome (disorder)	Finding site	Autonomic nerve structure	false	Inferred relationship	Some	2
Congenital Horner syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Congenital Horner syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital Horner syndrome (disorder)	Associated morphology	Prolapse (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Interprets	Size of pupil	false	Inferred relationship	Some	5
Congenital Horner syndrome (disorder)	Is a	Horner syndrome	true	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Finding site	Sympathetic nerve structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3701687013	Congenital Horner syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701688015	Congenital Horner syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701689011	Congenital Claude Bernard Horner syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701690019	A rare neurological disorder with characteristics of relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
907681000172119	syndrome de Horner congénital	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
927951000172112	syndrome congénital de Claude-Bernard-Horner	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
945101000172117	congenitaal syndroom van Claude-Bernard-Horner	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
981031000172118	congenitaal syndroom van Horner	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)