782782004: Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755744018	Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3755745017	Autosomal recessive spondylometaphyseal dysplasia Megarbane type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755746016	A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13.	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

Strength reference set

Description inactivation indicator reference set

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