Other osteochondrodysplasia with defects of growth of tubular bones and spine

Preferred Label : Other osteochondrodysplasia with defects of growth of tubular bones and spine;

Diag associé à un acte (%) : 87.5;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q778;

UMLS CUI

C0478077;

Orphanet concepts
- Acromesomelic dysplasia, Brahimi-Bacha type [ORDO Disease]
- Acromesomelic dysplasia, Maroteaux type [ORDO Disease]
- Acromicric dysplasia [ORDO Disease]
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type [ORDO Disease]
- Axial spondylometaphyseal dysplasia [ORDO Disease]
- Bone dysplasia, lethal Holmgren type [ORDO Disease]
- Cleidorhizomelic syndrome [ORDO Disease]
- Epimetaphyseal skeletal dysplasia [ORDO Disease]
- Epiphyseal stippling-osteoclastic hyperplasia syndrome [ORDO Disease]
- Humerospinal dysostosis [ORDO Disease]
- Ischiovertebral syndrome [ORDO Disease]
- Lethal Kniest-like dysplasia [ORDO Disease]
- Léri-Weill dyschondrosteosis [ORDO Disease]
- Melnick-Needles syndrome [ORDO Disease]
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ORDO Disease]
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasias [ORDO Disease]
- Micromelic dwarfism, Fryns type [ORDO Disease]
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome [ORDO Disease]
- Platyspondylic dysplasia, Torrance type [ORDO Disease]
- Platyspondylic lethal chondrodysplasia [ORDO Disease]
- Pseudoachondroplasia [ORDO Disease]
- Regressive spondylometaphyseal dysplasia [ORDO Disease]
- Spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Isidor type [ORDO Disease]
- Spondylometaphyseal dysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia, 'corner fracture' type [ORDO Disease]
- Spondylometaphyseal dysplasia, A4 type [ORDO Disease]
- Spondylometaphyseal dysplasia, Czarny-Ratajczak type [ORDO Disease]
- Spondylometaphyseal dysplasia, Golden type [ORDO Disease]
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
- Weismann-Netter syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- Spondylodysplastic dysplasias [ICD-11 Subcategory]
- Spondylometaphyseal dysplasias [ICD-11 Subcategory]

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