770603000: X-linked spondyloepimetaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\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

\General finding of observation of patient\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

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3701525012 X-linked spondyloepimetaphyseal dysplasia en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked spondyloepimetaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2
X-linked spondyloepimetaphyseal dysplasia	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3701524011	X-linked spondyloepimetaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3701525012	X-linked spondyloepimetaphyseal dysplasia	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core