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719298001: dysplasie van bekken en schouder (aandoening)


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
3315899012 Pelvis shoulder dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315900019 Pelvis shoulder dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315901015 Kosenow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315902010 Scapuloiliac dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6371041000146118 syndroom van Kosenow nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7048661000146119 dysplasie van pelvis en schouder nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7048671000146113 scapuloiliacale dysostose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7048681000146110 dysplasie van bekken en schouder nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7048691000146112 dysplasie van bekken en schouder (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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