782782004: Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (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\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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

4352151000052118 autosomalt recessiv spondylometafyseal dysplasi, Megarbane-typ sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
4352151000052118	autosomalt recessiv spondylometafyseal dysplasi, Megarbane-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)