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719299009: Pelviscapular dysplasia 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
3315905012 Pelviscapular dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315906013 Cousin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315907016 Familial pelvis-scapular dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315909018 Pelviscapular dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315910011 Pelviscapular dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315908014 Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14514591000172112 syndrome de dysplasie pelviscapulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14514601000172119 syndrome de Cousin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
14514611000172116 dysplasie pelviscapulaire familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4083391000172116 syndroom van dysplasie van bekken en schouderblad nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4083401000172119 syndroom van dysplasie van pelvis en scapula nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4083411000172116 syndroom van Cousin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4083421000172114 familiaire pelvi-scapulaire dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4083431000172112 Cousin-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
14578141000172114 familiale pelvi-scapulaire dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pelviscapular dysplasia Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Pelviscapular dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pelviscapular dysplasia Is a Dysostosis true Inferred relationship Some
Pelviscapular dysplasia Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Pelviscapular dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Pelviscapular dysplasia Associated morphology Developmental anomaly false Inferred relationship Some 2
Pelviscapular dysplasia Occurrence Congenital true Inferred relationship Some 2
Pelviscapular dysplasia Finding site Face structure true Inferred relationship Some 2
Pelviscapular dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 3
Pelviscapular dysplasia Occurrence Congenital false Inferred relationship Some 3
Pelviscapular dysplasia Finding site Bone structure of extremity false Inferred relationship Some 3
Pelviscapular dysplasia Occurrence Congenital true Inferred relationship Some 1
Pelviscapular dysplasia Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Pelviscapular dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Pelviscapular dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pelviscapular dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pelviscapular dysplasia Finding site Bone structure of extremity true Inferred relationship Some 1
Pelviscapular dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Pelviscapular dysplasia Is a Developmental hereditary disorder true Inferred relationship Some
Pelviscapular dysplasia Is a Congenital dysplasia of limb (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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