62803002: Frontometaphyseal dysplasia (disorder)

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

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia

\Clinical history and observation findings\General finding of observation of patient\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\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\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\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\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Frontometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Frontometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Frontometaphyseal dysplasia

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	Reference Sets
104373017	Frontometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
802016016	Frontometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1232394014	FMD - Frontometaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2023441000052110	frontometafyseal dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontometaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Frontometaphyseal dysplasia	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Frontometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Frontometaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Frontometaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Is a	Otopalatodigital syndrome spectrum disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets