770603000: X-linked spondyloepimetaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\X-linked spondyloepimetaphyseal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\X-linked spondyloepimetaphyseal dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3701524011 X-linked spondyloepimetaphyseal dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3701525012 X-linked spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3701257014 A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4203381000052116 X-bunden spondyloepimetafysdysplasi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	2
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Interprets	Limb length	true	Inferred relationship	Some	2
X-linked spondyloepimetaphyseal dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X-linked spondyloepimetaphyseal dysplasia (disorder)	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	3
X-linked spondyloepimetaphyseal dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
X-linked spondyloepimetaphyseal dysplasia (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3701524011	X-linked spondyloepimetaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701525012	X-linked spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701257014	A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4203381000052116	X-bunden spondyloepimetafysdysplasi	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)