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783559007: Reunion Island Larsen-like syndrome (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 Reference Sets
3759348014 Reunion Island Larsen-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3759349018 Reunion Island Larsen-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3759350018 Multiple joint dislocations, short stature, hyperlaxity, craniofacial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3759351019 A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4355821000052113 Reunion Island Larsen-liknande syndrom 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
Reunion Island Larsen-like syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Chronic metabolic disorder true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Reunion Island Larsen-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Reunion Island Larsen-like syndrome (disorder) Is a Disorder of glycoprotein metabolism true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Reunion Island Larsen-like syndrome (disorder) Is a Congenital anomaly of joint false Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Reunion Island Larsen-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Reunion Island Larsen-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Reunion Island Larsen-like syndrome (disorder) Finding site Skeletal system structure true Inferred relationship Some 1
Reunion Island Larsen-like syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Reunion Island Larsen-like syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Reunion Island Larsen-like syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Reunion Island Larsen-like syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Reunion Island Larsen-like syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Reunion Island Larsen-like syndrome (disorder) Associated morphology Dislocation true Inferred relationship Some 3
Reunion Island Larsen-like syndrome (disorder) Due to Spontaneous event (event) true Inferred relationship Some 5
Reunion Island Larsen-like syndrome (disorder) Is a Congenital dislocation of joint (disorder) true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 6
Reunion Island Larsen-like syndrome (disorder) Associated morphology Damage true Inferred relationship Some 7
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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