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782773005: Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)

Status: current, Not 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
3755717011 Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755718018 Lethal arteriopathy syndrome due to fibulin-4 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755719014 A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755717011 Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755718018 Lethal arteriopathy syndrome due to fibulin-4 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755719014 A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444191001000118 Letales Arteriopathie-Syndrom durch Fibulin-4-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590621000241116 syndrome d'artériopathie létale due à un déficit en fibuline-4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590621000241116 syndrome d'artériopathie létale due à un déficit en fibuline-4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444191001000118 Letales Arteriopathie-Syndrom durch Fibulin-4-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Associated morphology Aneurysm true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a Congenital arterial aneurysm true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Finding site Arterial structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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