205473008: Mesomelic dysplasia (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia
\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\Mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\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

315079014 Mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590845010 Mesomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168758010 Mesomelic dysplasia is shortening of the middle or intermediate portion of the limb. In the upper limb this is relative shortening of the radius and ulna, in the lower limb the tibia and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1455311000005119 Mesomelisk dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

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	false	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	kongenit dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	kongenit 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	kongenit 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	false	Inferred relationship	Some
Mesomelic dysplasia	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Some
Mesomelic dysplasia	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2
Mesomelic dysplasia	Interprets	Height / growth measure	false	Inferred relationship	Some	3
Mesomelic dysplasia	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Mesomelic dysplasia	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Mesomelic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Mesomelic dysplasia	Interprets	Limb length	true	Inferred relationship	Some	2
Mesomelic dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Mesomelic dysplasia	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Mesomelic dysplasia	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

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	False	Mesomelic dysplasia	Inferred relationship	Some
Robinow syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Kondrodysplasi, specificeret på anden måde	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia Savarirayan type (disorder)	Is a	False	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	False	Mesomelic dysplasia	Inferred relationship	Some
Robinow-like syndrome	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	False	Mesomelic dysplasia	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Rhizomelic syndrome Urbach type	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Diastrophic dysplasia	Is a	False	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia of upper limb (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Mesomelic dysplasia of lower limb	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315079014	Mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590845010	Mesomelic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5168758010	Mesomelic dysplasia is shortening of the middle or intermediate portion of the limb. In the upper limb this is relative shortening of the radius and ulna, in the lower limb the tibia and fibula.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1455311000005119	Mesomelisk dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul