205473008: Mesomelic dysplasia (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia
\Clinical history and observation findings\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic 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
315079014	Mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
315080012	Mesomelic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
590845010	Mesomelic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2016871000052119	mesomel 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
Mesomelic dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Mesomelic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Mesomelic dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Mesomelic dysplasia	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Mesomelic dysplasia	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Mesomelic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leri-Weill dyschondrosteosis	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Madelung's deformity	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Robinow syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
kondrodysplasi, specificerat på annat sätt	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia Savarirayan type (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Robinow-liknande syndrom	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Dyschondrosteosis and nephritis syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
SHOX-related short stature	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Rhizomelic syndrome Urbach type	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia of upper limb (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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