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 (disorder)

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

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

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

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 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

1455311000005119 Mesomelisk dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	Is a	Congenital malformation syndromes associated with short stature	false	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Clinical course	Progressive	false	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	3
Mesomelic dysplasia (disorder)	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Mesomelic dysplasia (disorder)	Interprets	Limb length	true	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Mesomelic dysplasia (disorder)	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 (disorder)	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Madelung's deformity	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Kondrodysplasi, specificeret på anden måde	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Robinow-like syndrome	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Dyschondrosteosis and nephritis syndrome	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never.	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987.	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Diastrophic dysplasia	Is a	False	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Mesomelic dysplasia of upper limb (disorder)	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
Mesomelic dysplasia of lower limb	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some
A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.	Is a	True	Mesomelic dysplasia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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	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
1455311000005119	Mesomelisk dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)