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766820007: Spondyloepimetaphyseal dysplasia with multiple dislocations (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 Reference Sets
3662733015 Spondyloepimetaphyseal dysplasia with multiple dislocations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3662734014 Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3662735010 Spondyloepimetaphyseal dysplasia with joint laxity type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3662736011 Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3662737019 Spondyloepimetaphyseal dysplasia with joint laxity Hall type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3662738012 Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3662739016 A rare genetic primary bone dysplasia disorder characterised by midface hypoplasia, short stature, generalised joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3662740019 A rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
4130541000052115 spondyloepimetafyseal dysplasi med flera luxationer sv Synonym (core metadata concept) Active Entire term case insensitive (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
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Finding site Bone structure true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology kongenital dysplasi false Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Occurrence Congenital true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Spondyloepimetaphyseal disorder true Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology Dysplasia true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology Dislocation true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia with multiple dislocations Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia with multiple dislocations Due to Spontaneous event (event) true Inferred relationship Some 4
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Developmental hereditary disorder true Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Interprets Height / growth measure true Inferred relationship Some 5
Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology Damage true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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