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1286834000: Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5255578019 Spondyloepimetaphyseal dysplasia with joint laxity type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255579010 Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5255580013 Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5255581012 SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5255582017 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400762010 A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400763017 A rare primary bone dysplasia characterised by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5255578019 Spondyloepimetaphyseal dysplasia with joint laxity type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5255579010 Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5255580013 Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5255581012 SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5255582017 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400762010 A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400763017 A rare primary bone dysplasia characterised by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. 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
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Congenital anomaly of bone and joint true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Spondyloepimetaphyseal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Range of joint movement increased (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Joint laxity true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Chronic arthropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Polyarthropathy associated with another disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Movement disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Congenital dislocation of joint (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Associated with Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Associated morphology Lateral abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a Scoliosis in skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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