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720568003: Brachydactyly and arterial hypertension 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 Reference Sets
3321268011 Brachydactyly and arterial hypertension syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321269015 Brachydactyly and arterial hypertension syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321270019 Bilginturan brachydactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321271015 Bilginturan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321272010 Brachydactyly type E with short stature and hypertension en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321273017 A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
990711000172119 brachydactylie type E avec petite taille et hypertension fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172871000172112 syndrome de Bilginturan fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2196381000172113 syndrome de brachydactylie hypertension artérielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
895311000172119 bilginturan brachydactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172851000172117 Bilginturan-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172861000172115 brachydactylie type E met kleine gestalte en hypertensie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172881000172110 Bilginturan-brachydactylie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172891000172113 syndroom van Bilginturan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2172901000172112 "brachydactylie, arteriële hypertensiesyndroom" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2196371000172110 syndroom van brachydactylie en arteriële hypertensie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachydactyly and arterial hypertension syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a Hypertensive disorder, systemic arterial (disorder) true Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a Brachydactyly syndrome type E true Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Systemic circulatory system structure false Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Has definitional manifestation Elevated blood pressure false Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Brachydactyly and arterial hypertension syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Bone structure of hand false Inferred relationship Some 4
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 5
Brachydactyly and arterial hypertension syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Entire digit false Inferred relationship Some 5
Brachydactyly and arterial hypertension syndrome (disorder) Has interpretation Increased true Inferred relationship Some 3
Brachydactyly and arterial hypertension syndrome (disorder) Interprets Blood pressure true Inferred relationship Some 3
Brachydactyly and arterial hypertension syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactyly and arterial hypertension syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Brachydactyly and arterial hypertension syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Systemic circulatory system structure true Inferred relationship Some 4
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Entire digit true Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome (disorder) Finding site Bone structure of hand true Inferred relationship Some 2
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Brachydactyly and arterial hypertension syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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