28681006: Metaphyseal chondrodysplasia (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)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia

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

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

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal disorder	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia - Sutcliffe type	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, Spahr type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal anadysplasia (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, Jansen type (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, Schmid type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Shwachman syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Acroscyphodysplasia (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Schmidt type (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hall Riggs syndrome	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia Kaitila type (disorder)	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Axial spondylometaphyseal dysplasia (disorder)	Is a	False	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Richieri Costa-da Silva syndrome	Is a	True	Metaphyseal chondrodysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

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
48019011	Metaphyseal chondrodysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
4482221000241118	chondrodysplasie métaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4482221000241118	chondrodysplasie métaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module