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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
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
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
3643816019 Larsen-like syndrome B3GAT3 type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5404204019 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by 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
5404205018 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterised by 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
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
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
3643816019 Larsen-like syndrome B3GAT3 type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5404204019 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by 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
5404205018 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterised by 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
3391971001000116 Larsen-ähnliches Syndrom, B3GAT3 Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013591000241111 syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013601000241116 syndrome de dislocations articulaires multiples, petite taille, dysmorphie craniofaciale, anomalies cardiaques congénitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013591000241111 syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013601000241116 syndrome de dislocations articulaires multiples, petite taille, dysmorphie craniofaciale, anomalies cardiaques congénitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391971001000116 Larsen-ähnliches Syndrom, B3GAT3 Typ 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
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Metabolic bone disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Disorder of glycoprotein metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Chronic heart disease true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 4
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 7
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 6
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 7
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 9
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Injury of face true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Bone injury true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Cardiovascular injury (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Injury of intrathoracic organ false Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a Injury of heart true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 9
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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