Short answer · Medically reviewed summary · Last updated: 2023-07-13
Snyder-Robinson Syndrome Snyder-Robinson Syndrome (SRS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, developmental delay, and skeletal abnormalities.
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ICD10 code of Snyder-Robinson Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Snyder-Robinson Syndrome, with classification details for clinicians, coders and patients.
Snyder-Robinson Syndrome
Snyder-Robinson Syndrome (SRS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, developmental delay, and skeletal abnormalities. SRS is caused by mutations in the Spermine Synthase (SMS) gene, which is responsible for the production of spermine, a polyamine involved in various cellular processes.
Clinical Features
Individuals with Snyder-Robinson Syndrome often exhibit a range of clinical features, which may vary in severity. The most common symptoms include:
- Intellectual disability: Individuals with SRS typically have mild to moderate intellectual disability, with some cases of severe intellectual impairment.
- Developmental delay: Delayed milestones, such as delayed speech and motor skills, are commonly observed in affected individuals.
- Skeletal abnormalities: SRS is associated with various skeletal abnormalities, including scoliosis (abnormal curvature of the spine), osteoporosis (reduced bone density), and joint contractures.
- Facial features: Some individuals with SRS may have distinctive facial features, such as a prominent forehead, a wide nasal bridge, and a pointed chin.
- Behavioral issues: Behavioral problems, such as hyperactivity, attention deficit, and autistic-like behaviors, can be present in individuals with SRS.
Diagnosis
The diagnosis of Snyder-Robinson Syndrome is typically based on clinical features, family history, and genetic testing. Genetic testing can identify mutations in the SMS gene, confirming the diagnosis. It is important to consult with a medical geneticist or a genetic counselor for proper evaluation and diagnosis.
ICD-10 Code
The International Classification of Diseases, 10th Revision (ICD-10), provides a coding system for diseases and medical conditions. The ICD-10 code for Snyder-Robinson Syndrome is Q87.8. This code falls under the category of "Other specified congenital malformation syndromes predominantly affecting facial appearance."
ICD-9 Code
The International Classification of Diseases, 9th Revision (ICD-9), was previously used for coding medical conditions. The corresponding ICD-9 code for Snyder-Robinson Syndrome is 759.89. This code falls under the category of "Other specified congenital anomalies."
It is important to note that the ICD-9 code has been replaced by the newer ICD-10 code, which provides a more detailed and comprehensive classification system.
X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
Posted Dec 20, 2022 by Chris 600
