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763778003: Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3643814016 Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3643815015 Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3643816019 Larsen-like syndrome B3GAT3 type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3643817011 Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3643818018 A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4165221000052113 Larsen-liknande syndrom, B3GAT3-typ sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Larsen-like syndrome B3GAT3 type Is a Congenital heart disease true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Metabolic bone disease true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Disorder of glycoprotein metabolism true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Finding site Heart structure false Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Occurrence Congenital true Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Occurrence Congenital true Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Associated morphology kongenital dysplasi false Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Finding site Bone structure false Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Finding site Face structure true Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Occurrence Congenital true Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Associated morphology kongenital dysplasi false Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Finding site Heart structure true Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Finding site Bone structure true Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Larsen-like syndrome B3GAT3 type Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Associated morphology Dysplasia true Inferred relationship Some 2
Larsen-like syndrome B3GAT3 type Is a Chronic metabolic disorder true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Chronic heart disease true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Associated morphology Dislocation true Inferred relationship Some 5
Larsen-like syndrome B3GAT3 type Interprets Range of joint movement true Inferred relationship Some 4
Larsen-like syndrome B3GAT3 type Has interpretation Decreased true Inferred relationship Some 4
Larsen-like syndrome B3GAT3 type Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 5
Larsen-like syndrome B3GAT3 type Is a Inherited arthrogryposis true Inferred relationship Some
Larsen-like syndrome B3GAT3 type Finding site Structure of joint region true Inferred relationship Some 7
Larsen-like syndrome B3GAT3 type Occurrence Congenital true Inferred relationship Some 7
Larsen-like syndrome B3GAT3 type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Larsen-like syndrome B3GAT3 type Clinical course Progressive (qualifier value) true Inferred relationship Some 6
Larsen-like syndrome B3GAT3 type Associated morphology Contracture true Inferred relationship Some 7
Larsen-like syndrome B3GAT3 type Due to Spontaneous event (event) true Inferred relationship Some 8
Larsen-like syndrome B3GAT3 type Associated morphology Damage true Inferred relationship Some 9
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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