22567005: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (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\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

\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\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

37882012 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

37883019 SED syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

37884013 Pseudoachondroplastic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

481375013 Pseudoachondroplasia en Synonym Active Entire term case insensitive SNOMED CT core module

751989010 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	Spondyloepiphyseal dysplasia congenita	false	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

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
37882012	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
37883019	SED syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
37884013	Pseudoachondroplastic dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
481375013	Pseudoachondroplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
751989010	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module