254060000: Otospondylomegaepiphyseal dysplasia (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Finding of back (finding)\Finding of spinal region\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia

\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

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

\Musculoskeletal finding (finding)\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\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\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Otospondylomegaepiphyseal dysplasia
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Otospondylomegaepiphyseal dysplasia

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
Otospondylomegaepiphyseal dysplasia	Is a	Kniest-Stickler dysplasia group	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Finding site	Bone structure of spine	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Is a	Disorder of trunk (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Disorder of spine	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Is a	Congenital anomaly of spine	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Finding of vertebra (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Finding site	Bone structure of spine	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Is a	Disorder of vertebral column (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otospondylomegaepiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otospondylomegaepiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otospondylomegaepiphyseal dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otospondylomegaepiphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Otospondylomegaepiphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
378207018	Otospondylomegaepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644900015	Otospondylomegaepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378207018	Otospondylomegaepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378207018	Otospondylomegaepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644900015	Otospondylomegaepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644900015	Otospondylomegaepiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434161001000112	Dysplasie, oto-spondylo-megaepiphysäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940391000172116	dysplasie oto-spondylo-mégaépiphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971091000172112	OSMED - otospondylomegaepiphyseal dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940391000172116	dysplasie oto-spondylo-mégaépiphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971091000172112	OSMED - otospondylomegaepiphyseal dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434161001000112	Dysplasie, oto-spondylo-megaepiphysäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module