254062008: Spondyloepimetaphyseal disorder (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

\Finding of general physiological development\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)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378211012 Spondyloepimetaphyseal disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644902011 Spondyloepimetaphyseal disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3035816013 Spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal disorder	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
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
Spondyloepimetaphyseal disorder	Finding site	Bone structure	true	Inferred relationship	Some	1
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	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	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	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
Sponastrime dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Micromelic spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Smith McCort dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Czech dysplasia metatarsal type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	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 (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	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 (disorder)	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Isidor type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	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 (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378211012	Spondyloepimetaphyseal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core