Valid for Submission
E70.331 is a billable diagnosis code used to specify a medical diagnosis of hermansky-pudlak syndrome. The code E70.331 is valid during the fiscal year 2022 from October 01, 2021 through September 30, 2022 for the submission of HIPAA-covered transactions.
The ICD-10-CM code E70.331 might also be used to specify conditions or terms like dense body defect, hermansky-pudlak syndrome, pulmonary fibrosis due to hermansky-pudlak syndrome or tyrosinase-positive oculocutaneous albinism.
Index to Diseases and Injuries
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E70.331 are found in the index:
- - Albinism, albino - E70.30
- - Hermansky-Pudlak syndrome - E70.331
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Dense body defect
- Hermansky-Pudlak syndrome
- Pulmonary fibrosis due to Hermansky-Pudlak syndrome
- Tyrosinase-positive oculocutaneous albinism
- DYSBINDIN-. a dystrophin associated protein and component of the biogenesis of lysosomal organelles complex 1 bloc 1 complex which is essential for the formation of lysosome derived organelles such as platelet dense granules and melanosomes. dtnbp1 is expressed primarily in the brain and neurons where it functions with adaptor protein complex 3 to transport membrane proteins to neurites and nerve terminals. it also regulates the release of neurotransmitters transport of synaptic vesicles and localization of dopamine d2 receptors. mutations in the dtnbp1 gene are associated with type 7 hermansky pudlak syndrome and schizophrenia.
- HERMANSKI PUDLAK SYNDROME-. syndrome characterized by the triad of oculocutaneous albinism albinism oculocutaneous; platelet storage pool deficiency; and lysosomal accumulation of ceroid lipofuscin.
Convert E70.331 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E70.331 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.
Information for Patients
Skin Pigmentation Disorders
Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body.
If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin.
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Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.
People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.
Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.
Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.
There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.
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