Osteochndrdys w defects of growth of tubular bones and spine (Q77)

• ICD-10 Index

  • Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

    • Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)

      • Osteochndrdys w defects of growth of tubular bones and spine (Q77)

        • Q77 - Osteochndrdys w defects of growth of tubular bones and spine NON-BILLABLE CODE
        • Q77.0 - Achondrogenesis BILLABLE CODE
        • Q77.1 - Thanatophoric short stature BILLABLE CODE
        • Q77.2 - Short rib syndrome BILLABLE CODE
        • Q77.3 - Chondrodysplasia punctata BILLABLE CODE
        • Q77.4 - Achondroplasia BILLABLE CODE
        • Q77.5 - Diastrophic dysplasia BILLABLE CODE
        • Q77.6 - Chondroectodermal dysplasia BILLABLE CODE
        • Q77.7 - Spondyloepiphyseal dysplasia BILLABLE CODE
        • Q77.8 - Oth osteochndrdys w defct of growth of tublr bones and spine BILLABLE CODE
        • Q77.9 - Osteochndrdys w defct of grth of tublr bones and spine, unsp BILLABLE CODE

Clinical Information for Osteochndrdys w defects of growth of tubular bones and spine (Q77)

Chondrodysplasia Punctata, Rhizomelic - An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

Chondrodysplasia Punctata - A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

Achondroplasia - An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Night Blindness - Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)

Instructional Notations

Type 1 Excludes Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.

• mucopolysaccharidosis E76.0 E76.3

Type 2 Excludes Type 2 Excludes
A type 2 excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.

• congenital myotonic chondrodystrophy G71.13