254062008: Spondyloepimetaphyseal disorder (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

\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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\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
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3035816013 Spondyloepimetaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

378211012 Spondyloepimetaphyseal disorder en Synonym Active Case insensitive SNOMED CT core

644902011 Spondyloepimetaphyseal disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal disorder	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Some
Spondyloepimetaphyseal disorder	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Bieganski type	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Isidor type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Sponastrime dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Micromelic dwarfism Fryns type	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Smith McCort dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Missouri type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia PAPSS2 type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Shohat type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Irapa type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Czech dysplasia metatarsal type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Autosomal recessive spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Namaqualand hip dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Progressive pseudorheumatoid dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Immuno-osseous dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Opsismodysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Dyssegmental dysplasia Silverman Handmaker type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Cono-spondylar dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with multiple dislocations	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some

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
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
378211012	Spondyloepimetaphyseal disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core