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28681006: Metaphyseal chondrodysplasia (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
48019011 Metaphyseal chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
483944016 Metaphyseal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759387017 Metaphyseal chondrodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4482221000241118 chondrodysplasie métaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

73 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metaphyseal chondrodysplasia Is a Disorder of bone (disorder) false Inferred relationship Some
Metaphyseal chondrodysplasia Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Metaphyseal chondrodysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia Occurrence Congenital false Inferred relationship Some
Metaphyseal chondrodysplasia Finding site Bone structure true Inferred relationship Some 1
Metaphyseal chondrodysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Metaphyseal chondrodysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Metaphyseal chondrodysplasia Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Metaphyseal chondrodysplasia Occurrence Congenital false Inferred relationship Some 2
Metaphyseal chondrodysplasia Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Metaphyseal chondrodysplasia Occurrence Congenital true Inferred relationship Some 1
Metaphyseal chondrodysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metaphyseal chondrodysplasia Is a Congenital malformation syndromes associated with short stature true Inferred relationship Some
Metaphyseal chondrodysplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Metaphyseal chondrodysplasia Interprets Height / growth measure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a False Metaphyseal chondrodysplasia Inferred relationship Some
Spondyloepimetaphyseal disorder Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type Is a False Metaphyseal chondrodysplasia Inferred relationship Some
Spondyloenchondrodysplasia Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, Spahr type Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal anadysplasia Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, Jansen type Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, Schmid type Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Shwachman syndrome Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Acroscyphodysplasia (disorder) Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a False Metaphyseal chondrodysplasia Inferred relationship Some
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. Is a False Metaphyseal chondrodysplasia Inferred relationship Some
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Is a False Metaphyseal chondrodysplasia Inferred relationship Some
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. Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Is a True Metaphyseal chondrodysplasia Inferred relationship Some
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. Is a True Metaphyseal chondrodysplasia Inferred relationship Some
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. Is a False Metaphyseal chondrodysplasia Inferred relationship Some
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984. Is a True Metaphyseal chondrodysplasia Inferred relationship Some

This concept is not in any reference sets

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