773304004: spondylometafysaire dysplasie Golden-type (aandoening)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden 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\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylometaphyseal dysplasia Golden type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	Spondyloepimetaphyseal disorder	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

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
3723053017	Spondylometaphyseal dysplasia Golden type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723054011	X-linked spondylometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723055012	Spondylometaphyseal dysplasia Golden type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6148861000146110	spondylometafysaire dysplasie type Golden (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148871000146116	X-gebonden spondylometafysaire dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7014511000146119	spondylometafysaire dysplasie type Golden	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689951000146115	spondylometafysaire dysplasie Golden-type (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12744471000146115	spondylometafysaire dysplasie Golden-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3723056013	A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core