782782004: Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755745017	Autosomal recessive spondylometaphyseal dysplasia Megarbane type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755744018	Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755745017	Autosomal recessive spondylometaphyseal dysplasia Megarbane type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3413081001000110	Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5590681000241115	dysplasie spondylométaphysaire autosomique récessive de type Megarbane	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5590681000241115	dysplasie spondylométaphysaire autosomique récessive de type Megarbane	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413081001000110	Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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