164835000: Limb length (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Clinical history/examination observable (observable entity)\Body region observable\Limb structure observable\Limb length

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

256416011 Limb length en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

256417019 Limb length measurement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

546207013 Limb length (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Limb length	Is a	Limb structure observable	true	Inferred relationship	Some
Limb length	Finding site	Limb structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arm length	Is a	True	Limb length	Inferred relationship	Some
Leg length	Is a	True	Limb length	Inferred relationship	Some
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.	Interprets	True	Limb length	Inferred relationship	Some	2
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	Interprets	True	Limb length	Inferred relationship	Some	6
Langer mesomelic dysplasia syndrome	Interprets	True	Limb length	Inferred relationship	Some	3
Nievergelt's syndrome	Interprets	True	Limb length	Inferred relationship	Some	3
Leri-Weill dyschondrosteosis	Interprets	True	Limb length	Inferred relationship	Some	3
Mesomelic dysplasia	Interprets	True	Limb length	Inferred relationship	Some	2
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.	Interprets	True	Limb length	Inferred relationship	Some	3
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	Interprets	True	Limb length	Inferred relationship	Some	2
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.	Interprets	True	Limb length	Inferred relationship	Some	2
syndrome de dyschondrostéose - néphropathie	Interprets	False	Limb length	Inferred relationship	Some	3
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.	Interprets	True	Limb length	Inferred relationship	Some	4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	Interprets	True	Limb length	Inferred relationship	Some	2
A rare syndromic primary bone dysplasia characterized by 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.	Interprets	True	Limb length	Inferred relationship	Some	4
Autosomal recessive Robinow syndrome	Interprets	True	Limb length	Inferred relationship	Some	6
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	Interprets	True	Limb length	Inferred relationship	Some	6
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.	Interprets	True	Limb length	Inferred relationship	Some	3
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.	Interprets	True	Limb length	Inferred relationship	Some	2
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.	Interprets	True	Limb length	Inferred relationship	Some	3
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.	Interprets	True	Limb length	Inferred relationship	Some	2
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	Interprets	True	Limb length	Inferred relationship	Some	5
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	Interprets	True	Limb length	Inferred relationship	Some	4
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	Interprets	True	Limb length	Inferred relationship	Some	2
Autosomal recessive omodysplasia (disorder)	Interprets	True	Limb length	Inferred relationship	Some	2
A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.	Interprets	True	Limb length	Inferred relationship	Some	2
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia.	Interprets	True	Limb length	Inferred relationship	Some	2
Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	Interprets	True	Limb length	Inferred relationship	Some	3
A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.	Interprets	True	Limb length	Inferred relationship	Some	2
A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.	Interprets	True	Limb length	Inferred relationship	Some	2
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	Interprets	True	Limb length	Inferred relationship	Some	7
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present.	Interprets	True	Limb length	Inferred relationship	Some	5

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
256416011	Limb length	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
256417019	Limb length measurement	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
546207013	Limb length (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core