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719298001: Pelvis shoulder dysplasia (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315899012 Pelvis shoulder dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3315900019 Pelvis shoulder dysplasia en Synonym Active Case insensitive SNOMED CT core
3315901015 Kosenow syndrome en Synonym Active Case sensitive SNOMED CT core
3315902010 Scapuloiliac dysostosis en Synonym Active Case insensitive SNOMED CT core
3315903017 A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pelvis shoulder dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Pelvis shoulder dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Pelvis shoulder dysplasia Pathological process Pathological developmental process true Inferred relationship Some 2
Pelvis shoulder dysplasia Finding site Structure of ala ossis ilii true Inferred relationship Some 1
Pelvis shoulder dysplasia Occurrence Congenital true Inferred relationship Some 1
Pelvis shoulder dysplasia Associated morphology Dysplasia true Inferred relationship Some 2
Pelvis shoulder dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Pelvis shoulder dysplasia Is a Developmental hereditary disorder true Inferred relationship Some
Pelvis shoulder dysplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Pelvis shoulder dysplasia Is a Congenital anomaly of ilium true Inferred relationship Some
Pelvis shoulder dysplasia Is a Dysostosis true Inferred relationship Some
Pelvis shoulder dysplasia Is a Congenital anomaly of scapula true Inferred relationship Some
Pelvis shoulder dysplasia Is a Inherited disorder of connective tissue false Inferred relationship Some
Pelvis shoulder dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Pelvis shoulder dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Pelvis shoulder dysplasia Occurrence Congenital true Inferred relationship Some 2
Pelvis shoulder dysplasia Finding site Bone structure of scapula true Inferred relationship Some 2
Pelvis shoulder dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 3
Pelvis shoulder dysplasia Occurrence Congenital false Inferred relationship Some 3
Pelvis shoulder dysplasia Finding site Structure of ala ossis ilii false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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