LD24.04 Chondrodysplasia punctata

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

postcoordination

synonyms

• Chondrodysplasia punctata
• chondrodysplasia punctata (stippled epiphyses) group
• chondrodysplasia punctata congenita
• dysplasia punctata epiphysis
• dysplasia punctata
• dysplasia epiphysealis punctata
• chondrodystrophy of punctata
• Rhizomelic chondrodysplasia punctata
• Chondrodysplasia punctata, autosomal recessive type
• RCDP - [rhizomelic chondrodysplasia punctata]
• Rhizomelic chondrodysplasia punctata type 1
• PTS2 receptor deficiency
• PEX7 deficiency
• RCDP1 - [rhizomelic chondrodysplasia punctata type 1]
• Rhizomelic chondrodysplasia punctata type 2
• Isolated DHAP-AT deficiency
• Isolated dihydroxyacetone phosphate acyltransferase deficiency
• RCDP type 2 - [rhizomelic chondrodysplasia punctata type 2]
• Rhizomelic chondrodysplasia punctata type 3
• Isolated alkyl DHAP synthase deficiency
• RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]
• Isolated alkyl dihydroxyacetone phosphate synthase deficiency
• Chondrodysplasia punctata, X-linked dominant
• Chondrodystrophia calcificans congenita
• Conradi-Hünermann-Happle syndrome
• Calcinosis universalis
• Sterol D8-D7 isomerase deficiency
• CDPX2 - [Chondrodysplasia punctata, X-linked dominant]
• Chondrodysplasia punctata, brachytelephalangic type
• Chondrodysplasia punctata, tibial-metacarpal type
• Chondrodysplasia punctata, Toriello type
• Toriello-Higgins-Miller syndrome
• Greenberg dysplasia
• Hydrops - ectopic calcification - motheaten skeletal dysplasia
• 3-beta-hydroxysterol delta-14-reductase deficiency
• HEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasia
• Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects
• 3-beta-hydroxysteroid C-4 dehydrogenase deficiency
• CHILD - [Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects] syndrome
• Astley-Kendall dysplasia
• Dappled diaphyseal dysplasia
• Chondrodysplasia punctata, Sheffield type
• Chondrodysplasia punctata from maternal disease

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