205473008: Mesomelic dysplasia (disorder)

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Is a	Congenital malformation syndromes associated with short stature	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Clinical course	Progressive	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Interprets	Height / growth measure (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia	Is a	Congenital malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia	Interprets	Limb length	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leri-Weill dyschondrosteosis	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Nievergelt's syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Langer mesomelic dysplasia syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Madelung's deformity	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Robinow syndrome	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia OS (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Kantaputra type (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleidorhizomelic syndrome (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Robinow-like syndrome	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyschondrosteose - Nephritis	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic syndrome Urbach type	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thoracic dysplasia and hydrocephalus syndrome (disorder)	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Diastrophic dysplasia	Is a	False	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of upper limb (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of lower limb	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type A6 (disorder)	Is a	True	Mesomelic dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spondyloepimetaphyseal dysplasia	Is a	True	Mesomelic dysplasia	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
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
315079014	Mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315079014	Mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315080012	Mesomelic dwarf	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315080012	Mesomelic dwarf	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	Only initial character 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
4885521000241117	dysplasie mésomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4885521000241117	dysplasie mésomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module