Congenital ichthyosis (Q80)
This section covers the ICD-10 codes related to congenital ichthyosis, a group of inherited skin disorders characterized by dry, scaly skin present from birth. Each code specifies different types, including common forms like ichthyosis vulgaris and rare severe variants such as harlequin fetus.
The primary ICD-10 code Q80 is used for documenting congenital ichthyosis broadly. More specific subcodes detail distinct conditions: Q80.0 identifies ichthyosis vulgaris, also called autosomal dominant ichthyosis vulgaris, a frequent mild form. Q80.1 covers X-linked ichthyosis involving steryl-sulfatase deficiency, while Q80.2 describes lamellar ichthyosis, known by synonyms such as congenital non bullous ichthyosiform erythroderma. The severe neonatal form, harlequin fetus, is captured under Q80.4. Codes Q80.3 and Q80.8 include other rare ichthyosis types like congenital bullous ichthyosiform erythroderma (Rud’s syndrome) and various hereditary syndromes. Q80.9 serves for unspecified congenital ichthyosis cases with a wide spectrum of associated syndromes. These codes assist healthcare providers and coders in identifying the exact congenital ichthyosis type for accurate diagnosis and treatment documentation.
Instructional Notations
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.
- Refsum's disease G60.1
Clinical Terms
The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.
Hypohidrosis
Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.
Ichthyosis
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Ichthyosis Bullosa of Siemens
An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
Ichthyosis Vulgaris
Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
Ichthyosis, Lamellar
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Ichthyosis, X-Linked
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Sjogren-Larsson Syndrome
An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
Trichothiodystrophy Syndromes
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Xerostomia
Decreased salivary flow.
