LD24.04

ICD-11 MMS 2026-01

Chondrodysplasia punctata

Index terms

  • Chondrodysplasia punctata
  • chondrodysplasia punctata (stippled epiphyses) group
  • chondrodysplasia punctata congenita
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  • chondrodystrophy of punctata
  • dysplasia epiphysealis punctata
  • dysplasia punctata
  • dysplasia punctata epiphysis
  • Rhizomelic chondrodysplasia punctata
  • Chondrodysplasia punctata, autosomal recessive type
  • RCDP - [rhizomelic chondrodysplasia punctata]
  • Rhizomelic chondrodysplasia punctata type 1
  • PEX7 deficiency
  • PTS2 receptor 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
  • Isolated alkyl dihydroxyacetone phosphate synthase deficiency
  • RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]
  • Chondrodysplasia punctata, X-linked dominant
  • CDPX2 - [Chondrodysplasia punctata, X-linked dominant]
  • Calcinosis universalis
  • Chondrodystrophia calcificans congenita
  • Conradi-Hünermann-Happle syndrome
  • Sterol D8-D7 isomerase deficiency
  • Chondrodysplasia punctata, brachytelephalangic type
  • Chondrodysplasia punctata, tibial-metacarpal type
  • Chondrodysplasia punctata, Toriello type
  • Toriello-Higgins-Miller syndrome
  • Greenberg dysplasia
  • 3-beta-hydroxysterol delta-14-reductase deficiency
  • HEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasia
  • 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

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD24.00 – Achondroplasia
  • LD24.01 – Hypochondroplasia
  • LD24.02 – Thanatophoric dysplasia
  • LD24.03 – Diastrophic dysplasia
  • LD24.0Y – Other specified syndromes with micromelia
  • LD24.0Z – Syndromes with micromelia, unspecified

Foundation entity

Chondrodysplasia punctata – http://id.who.int/icd/entity/1923035846

Allowed postcoordination axes

Part of: LD24.0: Syndromes with micromelia › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies