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718602007: Hereditary arterial and articular multiple calcification syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3312883011 Hereditary arterial and articular multiple calcification syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312884017 Hereditary arterial and articular multiple calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401780012 Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401781011 Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterised by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paraesthesia of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Calcification of joint true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Vascular calcification true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Vascular disorder of lower extremity (disorder) true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a Disease of non-coronary systemic artery true Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 2
Hereditary arterial and articular multiple calcification syndrome (disorder) Finding site Joint structure true Inferred relationship Some 2
Hereditary arterial and articular multiple calcification syndrome (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 3
Hereditary arterial and articular multiple calcification syndrome (disorder) Finding site Structure of artery of lower limb (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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