LD24.3ICD-11 MMS 2026-01
Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
Description
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).
Index terms
- Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
- Congenital spondyloepiphyseal dysplasia
- SED - [spondyloepiphyseal dysplasia]
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- SEDC - [spondyloepiphyseal dysplasia congenita]
- spondyloepiphyseal dysplasia
- spondyloepiphyseal dysplasia congenita
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Kniest dysplasia
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- spondyloepimetaphyseal dysplasia
- spondyloepiphyseal dysplasia congenita group
- Spondyloperipheral dysplasia - short ulna
- Czech dysplasia, metatarsal type
- Otospondylomegaepiphyseal dysplasia
- Weissenbacher- Zweymuller syndrome
- Fibrochondrogenesis
- Dyssegmental dysplasia, Silverman-Handmaker type
- Dyssegmental dysplasia, Rolland-Desbuquois type
- Metatropic dysplasias
- Metatropic dwarfism
- Parastremmatic dwarfism
- Schneckenbecken dysplasia
- SLC35D1-CDG
- Solute carrier family 35 deficiency
- Spondyloepiphyseal dysplasia, Maroteaux type
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
- Spondyloepiphyseal dysplasia tarda, X-linked
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondyloepiphyseal dysplasia, Omani type
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondyloepiphyseal dysplasia, Nishimura type
- Spondyloepiphyseal dysplasia, Reardon type
- Spondyloepiphyseal dysplasia, MacDermot type
- Spondyloepiphyseal dysplasia, Byers type
- Spondyloepiphyseal dysplasia, Cantu type
- Dyggve-Melchior-Clausen disease
- Smith-McCort dysplasia
- Spondylar and nasal alterations with striated metaphyses dysplasia
- SPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasia
- short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Spondyloepimetaphyseal dysplasia - joint laxity
- Spondyloepiphyseal dysplasia, Pakistani type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, X-linked
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia - multiple dislocations
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepimetaphyseal dysplasia - hypotrichosis
- Spondyloepimetaphyseal dysplasia, Bieganski type
- Spondyloepimetaphyseal dysplasia - abnormal dentition
- Spondyloepimetaphyseal dysplasia, Genevieve type
- Spondyloenchondrodysplasia
- Spondyloenchondromatosis
- Progressive pseudorheumatoid arthropathy of childhood
- Brachydactylous dwarfism, Mseleni type
- Anauxetic dysplasia
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, anauxetic type
- CHST3-related skeletal dysplasia
Exclusions from above levels
- http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism
Sibling codes
LD24.0– Syndromes with micromeliaLD24.1– Bone diseases with increased bone densityLD24.2– Bone diseases with disorganised development of skeletal componentsLD24.4– Spondylometaphyseal dysplasiasLD24.5– Spondylodysplastic dysplasiasLD24.6– Multiple epiphyseal dysplasia or pseudoachondroplasiaLD24.7– Multiple metaphyseal dysplasiasLD24.8– Acromelic dysplasiasLD24.9– Acromesomelic dysplasiasLD24.A– Mesomelic or rhizomesomelic dysplasiasLD24.B– Short rib syndromesLD24.C– Bent bone dysplasiasLD24.D– Slender bone dysplasiasLD24.E– Bone dysplasias with multiple joint dislocationsLD24.F– Progressive ossification of skin, skeletal muscle, fascia, tendons or ligamentsLD24.G– Syndromic craniosynostosesLD24.H– Dysostoses with predominant vertebral and costal involvementLD24.J– Patellar dysostosesLD24.K– Genetic bone diseases with decreased bone densityLD24.Y– Other specified syndromes with skeletal anomalies as a major featureLD24.Z– Syndromes with skeletal anomalies as a major feature, unspecified
Foundation entity
Spondyloepiphyseal or spondyloepimetaphyseal dysplasias – http://id.who.int/icd/entity/1977414063
Part of: LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies