719204007: Spondyloepiphyseal dysplasia Maroteaux type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Maroteaux type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315408015	Spondyloepiphyseal dysplasia Maroteaux type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3315409011	Spondyloepiphyseal dysplasia Maroteaux type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315411019	Pseudo-Morquio syndrome type 2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315410018	A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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