28681006: Metaphyseal chondrodysplasia (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\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\Metaphyseal chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

48019011 Metaphyseal chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
483944016 Metaphyseal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759387017 Metaphyseal chondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Metaphyseal chondrodysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Metaphyseal chondrodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Metaphyseal chondrodysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kozlowski spondylometaphyseal dysplasia	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondyloepimetaphyseal disorder	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia - Sutcliffe type	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Spahr type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal anadysplasia	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Schmid type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Shwachman syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Acroscyphodysplasia (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia Schmidt type (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Hall Riggs syndrome (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia Kaitila type (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some
Axial spondylometaphyseal dysplasia (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Some
Richieri Costa-da Silva syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
48019011	Metaphyseal chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483944016	Metaphyseal dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759387017	Metaphyseal chondrodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core