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766820007: Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662733015 Spondyloepimetaphyseal dysplasia with multiple dislocations en Synonym Active Case insensitive SNOMED CT core
3662734014 Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3662735010 Spondyloepimetaphyseal dysplasia with joint laxity type 2 en Synonym Active Case insensitive SNOMED CT core
3662736011 Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type en Synonym Active Case insensitive SNOMED CT core
3662737019 Spondyloepimetaphyseal dysplasia with joint laxity Hall type en Synonym Active Initial character case insensitive SNOMED CT core
3662738012 Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type en Synonym Active Initial character case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepimetaphyseal dysplasia with multiple dislocations Pathological process 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 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 true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia with multiple dislocations Due to Spontaneous 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 false Inferred relationship Some 6
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Bone injury true Inferred relationship Some
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 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 Congenital dysplasia false Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Occurrence Congenital true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a Inherited disorder of connective tissue 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

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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